TEZA 1:

Marrja e mostres se gjakut ne lab mjekesor. Llojet e mostrave te gjakut; tubat e perdorura per to. Gabimet gjate marrjes se gjakut venoz:

1. Marrja e mostres:
a. laboratorit I jepet: mostra per testin e kerkuar + informacion mbi mostren
b. Cdo moster shoqerohet me flete kerkesen:
i. Identifikim pt
ii. Te dhena themelore per patologjine qe dyshohet
iii. Emri I analizes se kerkuar
iv. Kjo sherben per te ndihmuar laboratoristin dhe mjekun klinicist
+ per rivleresim te diagnozes dhe gjendjes se pt
2. Mostra e gjakut:
a. Merret pa antikoagulant; ne nje epruvete te thjeshte; lejohet mpiksja; centrifugohet; perftohet SERUMI
serumi= komponenti likuid pasi largohet gjaku I mpiksur; ne ndryshim nga PLAZMA nuk ka faktore te koagulimit
b. Merret me antikoagulant; si heparine; me nje epruvete; centrifugohet; supernatanti quhet plazme
PLAZMA= komponenti likuid I gjakut qe mbetet pasi jane larguar qelizat e gjakut(RBC; WBC; trombocitet)
3. Tubat e perdorur per to: (sistemin me vakum)
a. Tub me tape te kuqe nuk ka antikoagulant ose aditiv perdoret per perftim te serumit dhe analiza te pergjithshme
b. Tub me tape levander ka antikoagulant EDTA perftohet plazme perdoret per analiza te gjakut te plote; analiza te eritrociteve; analiza te
lipideve dhe lipoproteinave
c. Tub me tape bojqielli antikoagulant Sodium Citrat (ne raport 9:1) perftohet plazme perdoret per analiza te faktoreve te koagulimit
d. Tub me tape te verdhepermban xhel aditiv SST eshte xhel qe ndan serumin nga masa qelizore pas centrifugimit perdoret per analiza te
pergjithshme
e. Tub me tape jeshile permban HEPARINE perftohet plazme
f. Tub me tape te zeze AK (buffered sodium citrate)
g. Tub me tape gri
Tubat qe perdoren ne flebotomi:
a. Tuba sistem I hapur + shiringe
b. Tuba sistem I mbyllur me vacum
c. Tuba me ngjyre universale: standart nderkombetar ne varesi te permbajtjes se tubit
d. Shishe per hemokulture: perdoret per analize te bakterve ne gjak
4. Gbaimet gjate marrjes:
a. Teknika e marrjes se gjakut:
i. Veshtiresi ne marrje te mostres se gjakut con ne hemolize dalje te K+ jashte
b. Staze e tejzgjatur gjate punksionit venoz uji I plazmes futet ne hapsiren intracelulare mostra e marre e serumit ose plazmes eshte e
perqendruar proteinat dhe komponente te lidhur per proteina do te jene te ngritur rrejshem
c. Mostra e pamjaftueshme:
 i. Tubat duhet te mbushen ne sasise e kerkuar qe te maten te gjithe gjerat e kerkuara
ii. Nuk duhet te prishen raportet, aditiv ose antikoagulant: gjak
d. Ena jo-e pershtatshme per analizen e kerkuar
i. Mostrat per glukoze duhet te mirren me nje ene qe permban fluor qe frenon glikolizen
ii. Nese mosta eshte ekspozuar ndaj nje ak ose konservuesi nuk duhet te hidhet ne nje ene tjt
e. Vend jo I pershtashem per marrje te mostrave:
i. Nuk duhet te merren ne drejtim te rrjedhjes se infuzionit iv pasi mund te jap nje rezultat fals per glukozen
f. Ruajtje jo-e drejte e msotres: mostra dergohet ne lab shume ore pas marrjes  vlera te rrejshme te ca__ ; fosfatit dhe enzimave te eritrociteve;
sic eshte laktatdehidrogjenaza
1. Sekretimi I GH eshte prominent gjate fazave te deep sleep, pulsatil dhe stimulohet nga faktore si: ushtrimet; stresi; hipoglicemia dhe mjekime te ndryshme.
2. Kortizoli sekretohet sipas ritmit cirkadian
3. 40% e individeve mund te kene te pranishme antitrupa specifik qe interferojne me teste imunologjike
4. Testet dinamik= nxitje/ frenim te nje boshti te caktuar hormonal dhe vrojtim I pergjigjes hormonale
nese dyshoht per mangesi te nje hormoni testi I stimulimit
nese dyshohet per tepri te nje hormoni testi I frenimit
5. GH rritet ne kushtet te nje hipoglicemi
TESTI I tolerances ndaj insulines ose IST behet ne rastet kur dyshohet per HIPOPITUITARIZEM; ne keto kushte administrohet insulin  shok hipoglicemik
NXIT hipofizen anteriore ACTH (matet nivelili I kortizolit > 500nmol/L)  GH (>20mU/L)
6. Testi I TRH  semundje hipotalamike/ semundje hiper/hipotiroidizem jepet TRH si doze intravenoze dhe ne minuten 0,20-60 matet perqendrimi I TSH
dhe prolaktines
7. Testin e GnRH
8. Testi I tolerances ndaj glukozes orale me matje te GH perdoret ne rastet kur dyshohet per akromegali
ne rast se adulti eshte I shendoshe hiperglicemia frenim te GH ne nivele <2Mu/L dhe ne rastet e akromegalise nuk ndodh frenimi edhe ne kushtet e
hiperglicemise
9. Testi I supresionit me doe te ulet te deksametazonit zbulim te hiperreaktivitetit te boshtit HIPOTALAMUS-HIPOFIZE0 ADRENAL GLANDS
nje dite para administrohet 1mg deksametazon  njeriu normal pergjigja eshte ulje e kortizolit <50nmol/L
10. Testi I supresionit me doze te larte te deksametazonit perodet ne mungese te frenimit te kortizolit me doze te ulet 1 mg jepet 8mg dhe behet diferencimi
mes semundjes cushing dhe prodhimit ektopik te ACTH
rritja e dozes se deksametazonit nuk frenon prodhimin ACTH dhe kortizolit ne rast te sintezes ektopike te tij
11. Hipofiza anteriore: TSH; ACTH; LH dhe FSH; GH; prolaktinen
12. Hipofiza posteriore: depozitim te HAD; oksitocines te sintetizuar nga neuronet hipotalamike
13. ADH stimulohet nga: osmolaliteti I larte I plazmes; renie e vellimit te gjakut; stresi
14. Oksitocina: ne pergjigje te thithjes se gjirit dhe kontraksioneve te mitres
15. Ne rritjen e femijes: GH; IGF; tiroksina; kortizoli; steroidet seksuale dhe insulina
16. Akromegalia sekretim I shtuar I GH pas mbyllje se epifizave kockore
Elementi
Fosfati  Eshte anion I rendesishem brenda dhe
jashteqelizor.
 Shumica e fosfatit ne organizem gjenden
ne kocka dhe ne dhembe si
HIDROKSIAPATIT, forme e mineralizuar e
calcium pfospahtit.
 Ne ICF:
 pjese me e madhe e kapur ne lidhje
kovalente me lipide dhe proteina
 luan rol te rendesishem ne
metabolizem si pjese e ATP; dhe
 pjese e ARN dhe ADN
 fosforilimi dhe defosforilim enzimash
 Ne ECF:
 ne formen e monohidrogjen
fosfatit/ne formen e dihidrogjen
fosfatit FOSFAT inorganik
kontribon ne mbajtje te presionit
osmotik dhe pH
 Pjese e rendesishme e membranave
qelizore
 VLERAT NE NORME NE SERUM JANE:
0,81-0,145 mmol/L
20% e fosfatit ne plazem eshte I lidhur me
proteina
 Ne plazem fosfat/kalcium kane raport
invers proporcional
 HOMEOSTAZA:
1) PTH sekretohet nga paratiroidja ne
pergjgije te  ca++
 vepron ne veshka: rrit reabsorbim te
ca++ dhe ul reabsorbim te fosfatit
 ne zorre vit D duke rritur perthithje
te ca++ dhe fosfatit
rrit rezorbimin kockor  ca++ dhe
fosfatit ne gjak
2) vit D (kalcitriol)  reabsorbimin ne
HIPERFOSFATEMIA: HIPOFOSFATEMIA: (<0,3 mmol/L)
1. PAMJAFTUESHMERIA VESHKORE: 1. HIPERPARATIROIDIZMI:
 demtim I ekskretimit te fosfatit  PTH  reabsorbimit te fosfatit
 ulje te konvertimit te vit D ne formen e saj nga veshkat fosfatit ne urine
aktive 2. TRAJTIMI I KETOACIDOZES DIABETIKE:
2. HIPOPARATIROIDIZMI: insulin
  te PTH  insulina  GLUT 4 kotransport
3. RISHPERNDARJA: glukozes dhe fofateve
 hemolize/ rabdomiolize  insulna  te reabsorbimit te
4. PSEUDOHIPOPARATIROIDIZEM: glukozes ne tubujt renal 
 rezistence indit ndaj PTH osmolaritetit tubular inhibim te
reabsorbimit
 Shkakton: insulina nxit glikolizenformim
1. Depozitim te kristaleve te phosphatit te ATP  hipofosfatemi
calciumit ne inde te buta komplikacione 3. ALKALOZA:
kardiake (kalcifikim vaskular; ngurtesim si mekanizem kompensator H+ do dal
arterial) jashte qelizave; fosfati do te futet
2. Insuf renale brenda
3. HIPOKALCEMI 4. Sindroma e riushqyerjes:
pt e paushqyer kur ushqehen per here
te pare; fosfati futet brenda ne qelize
5. Hipofosfatemia onkogjenike:
masat neoplazike FGF23
6. Gelltitje e antacideve joabsorbuese
AL(oh)3pengojne perthithjes e
fosfatit
7. Defekte kongenitale te rithithjes
tubulare te fosfatit
 SHKAKTON:
1.Dobesi muskulore
2.Paaftesi respiratore
3.Simptoma neurologjike
4.Abnormalitete kardiake
 TRAJTIMI:
 infuzion i.v te fosfateve
* prirje per hipofosfatemi kane
 intenstin te fosfatit
3) FGF23 ul reabsorbimin e fosfatit ne
veshka
Magnezi  Kation I rendesishem brendaqelizor
 ICF mg >> ECF mg
 Icf vlera 15-30 mmol/L
 Ecf mg= 0,7-1.0 mmol/L
 HOMEOSTAZA E Mg:
 merrren 15mmol/dite
 absorbohet ne zorren e holle 30%
 reabsorbohet ne veshke 95% e mg te
filtruar
alkolistet
HIPERMAGNEZEMIA: HIPOMAGNEZEMIA: (<0,7 mmol/L ne
 E rralle: shihet tek pamjaftueshmeria veshkore serum)
 SIMPTOMA:
 demtim te funskioneve
neuromuskulare si tetani
 hiperiritabilitet
 konvulsione
 dobesi muskulore
1. PAMJAFTUESHEMRIA E MARRJES e
shoqeuar me malabsorbim intenstinal
2. Diarre; te vjella ose shkaqe te tjera te
humbjeve intestinale
3. Diureza osmotike: ne rastin e diabetit
 rritje te fluksit urinar ulje te kohes
per reabsorbim
4. Terapia me diuretik per nje kohe te
gjate
5. Thithja nazogastrike
6. CYSPLATINA & CIKLOSPORINA demtim
tubujve renal
PER TE ZBULUAR HIPOMAGNEZEMINE NE
ecf teste la  <0,7 mmol/L
Per te zbulu hipomg icf nmr
SPEKTROSKOPI te leukociteve periferike
ose biopsi m
TRAJTIMI:
1. Kujdes! Marrja mg nga goja
shoqerohet me diarre duhet
jepen ne rruge parenterale dhe
duhet pasur kujdes per
HIPOTENSION
2. Adm I kriprave te mg eshte I
kunderindikuar ne rast te
demtimeve renale
Mg perdoret preeklampi dhe ulje te
 presinit te gjakut
MUNGESA MG  DEMTIM renal prej
nefrotoksinave; diuretikeve; diabetit

KALCIUMI  Kalciumi ne serum 2,4mmol/L Hipokalcemia:

 ½ lidhur me proteina 6 shkaqe:
 Lidhja e ca me proteina ne acidoze e 1. Hipoparatiroidizem
zvogeluar 2. Mungese vit D
 Ca plaidhur fraksion aktiv biologjik I ca 3. Semundje renale
total ne plazme 4. Pseudohipoparatiroidizem
 Funksionet: 5. Mungesa e ca
nervat 6. Malinjitete; rhabdomiolize;
 pershkrueshmerin e membranave pankreatit akut
 kontraksionin muskulor
 sekrecionin glandular Vecori klinike:
 Ne rast se perq albumines ne serum bie  therja
ca total eshte me I vogel, por ca palidhur  tetania
ose I jonizuar normal pt nuk merret si  ndryshime mendore
HIPOKALCEMIK  shenja kardiovaskulare
 Ca total= fraksioni ilidhur + fraksioi I
palidhur
 Nese ca korrigjuar (vlera e ca nese
albumina do ishte nromale)= ca total I
matur + 0,02 (47- albumin)

Metabolizmi i Ca dhe hormonet e lidhura me te Prof. Asc. Etleva Refatllari

• Balanca e Ca ne organizem vendoset nga ekuilibri i 3 proceseve
te meposhtme te rregulluar nga hormonet
– Absorbimi intestinal
– Ekskretimi renal
– Rimodelimi kockor (rezorbim dhe formim)
Prof. Asc. Etleva Refatllari 2
Kalciumi (Ca)
• 99% e Ca gjendet ne skelet (rezervuar) kryesisht si
hidroksiapatit
• Vetem rreth 1% e Ca kockor eshte i shkembyeshem
• Indi kockor nuk eshte nje ind metabolik inert; ka levizje te
Viti shkollor 2019 - 2020
DIAGNOZA DHE MONITORIMI
LABORATORIK I DIABETIT
1
C’eshte diabeti?
• Diabeti – grup crregullimesh metabolike qe karakterizohet
nga hiperglicemia e shkaktuar nga defektet ne sekretimin
e insulines, veprimin e insulines ose ne te dyja
• Hiperglicemia kronike jep demtime dhe crregullime te
funksionit te organeve te ndryshme vecanerisht ne sy,
veshka, nerva, zemer dhe enet e gjakut
vazhdueshme te Ca nga kocka drejt lengut ekstraqelizor • Semundje kronike qe kerkon monitorim dhe kujdes
(ECF) dhe e kunderta mjekesor te vazhdueshem me:
• Procesi quhet rimodelim kockor • Kontroll te glicemise
• Rreth 1% e Ca total gjendet ne likidet ekstraqelizore • Strategji per reduktimin e riskut multifaktorial
• Perqendrimi plazmatik i Ca total eshte 2.2 – 2.6 mmol/L • Edukimi i pacientit per vetemonitorim eshte kritik per
• Format plazmatike parandalimin e komplikacioneve akute dhe reduktimin e
– I kompleksuar me acidet organike (p.sh.fosfat, laktat, riskut per komplikacione afatgjata te shendetit.
bikarbonat, citrat) Prof. Asc. Etleva Refatllari
– I lidhur me proteinat – rreth 80 % e Ca te lidhur me 2
proteinat lidhet me albuminen, 20% me globulinat Klasifikimi i diabetit
– I jonizuar (1.03 – 1.3mmol/l) Prof. Asc. Etleva Refatllari
Prof. Asc. Etleva Refatllari 3 3
• Fraksioni biologjikisht aktiv - Ca i jonizuar Diabet i tipit 1
• Acidoza favorizon jonizimin ndersa alkaloza favorizon a) Mekanizem imun
lidhjen me proteinat duke pakesuar fraksionin b) Idiopatik
biologjikisht aktiv ne gjak Diabet i tipit 2
• Nevojat ditore: 1 – 1,2 g ne dite Diabeti i barres
• Nevojat varen nga: Tipe te tjera diabeti
– Marrjet (burimi kryesor – ushqimet me baze a) Defekte gjenetike ne funksionin e qelizave beta
qumeshti) b) Defekte gjenetike ne funksionin e insulines
– Absorbimi (absorbimi maksimal – duoden) vetem c) Semundje te pankreasit ekzokrin
30% e kalciumit te marre me ushqim absorbohet d) Endokrinopati
– Ekskretimi (zorre dhe veshka) e) Diabet i induktuar nga medikamente ose produkte kimike
Prof. Asc. Etleva Refatllari 4 f) Diabet i induktuar nga infeksione
Matjet laboratorike g) Forma imune
• Kalcium total h) Sindroma gjenetike qe shoqerohen me diabet
• Kalcium i jonizuar Diabeti i tipit te pare
• Kalcium i korrigjuar per sasine e albumines •Shenjat e para ky tip i diabetit i jep qe ne femijeri
– Ca total + [(44-Albumine) x 0.015] ose adoleshence – diabeti juvenil
– Merr parasysh ndryshimin e albumines •Diabeti i tipit te pare eshte nje semundje
– Llogarit sa mund te jete perqendrimi i Ca nese autoimune qe shoqerohet me shkaterrim te
albumina eshte normal qelizave beta te pankreasit ku prodhohet insulina
– Duhet interpretuar me kujdes kur pH nuk eshte – diabet insulinovartes
normal •Trajtimi i vetem ne kete forme diabeti eshte
– Nuk ka vlere kur albumina eshte shume e ulet (<20 injektimi i rregullt i insulines per te kompensuar
mg/l) mos prodhimin ose prodhimin e reduktuar
Prof. Asc. Etleva Refatllari 5 Prof. Asc. Etleva Refatllari
Funksionet e Ca 4
Ca merr pjese: Diabeti i tipit te pare
• ne procesin e eksitimit neuromuskular Te dhenat klinike
• ne koagulim • Diagnostikohet ne moshe te re (piku i diagnozes ne
• ne proceset sekretore moshen e pubertetit)
• ne reaksione enzimatike • Pacientet zakonisht kane etje te shtuar, urinim te
• ne mineralizimin e kockes shpeshte, humbje ne peshe dhe dobesi (pakesim te
• ne clirimin e hormoneve/neurotransmetuesve energjive)
• ne veprimin intraqelizor te hormoneve • Shpesh ka histori pozitive per pranine e diabetit ne familje
• ne integritetin dhe transportin membranor (jo gjithnje)
Prof. Asc. Etleva Refatllari 6 • Shpesh shoqerohet me demtim autoimun te organeve te
Rregullimi i metabolizmit te kalciumit ndryshme endokrine (hipotiroze, hipoadrenalizem)
• Influenca e hormonit te • Varesi gjate gjithe jetes nga insulina
paratiroides • Progresion drejt ketozes (kur nuk mjekohet mire)
• Influenca e vit D • Pacientet shpesh paraqiten me simptoma akute te
• Influenca e kalcitonines diabetit, hiperglicemi shume te larte, ne disa raste me
Prof. Asc. Etleva Refatllari 7 forma te renda ketoacidoze (ne rrezik jete)
Parathormoni (PTH) Prof. Asc. Etleva Refatllari
• Hormoni kryesor qe rregullon perqendrimin e Ca++ ne serum 5
• Sintetizohet dhe sekretohet nga qelizat e gjendres Diabeti i tipit te pare
paratiroide; rezerva e gjendres – 1,5 ore Te dhenat laboratorike
• Sintetizohet si Pre-Pro-PTH me 115aa;transformohet ne ProPTH me 90aa •Glicemia esell e larte (>126mg/dL)
(largohen 25aa hidrofobe nga skaji N •Glukozuri
fundor);transformohet me tej dhe sekretohet si PTH me •Shpesh gjejme ketonuri ose ketonemi
84aa (largohen nga skaji N fundor nje hekzapeptid bazik) •Ulet perqendrimi i insulines
• Fragmentet aktive = 34 aa •Rritet perqendrimi i hemoglobines se glukozuar
• Sekretimi eshte Ca vartes (shtimi i perqendrimit te PTH •Ka prani te antikorpeve kunder ishujve te
shkon linear me uljen e perqendrimit te Ca ne plazem) pankreasit (gjenden shpesh pas vitit te pare te
• Degradimi – hepar dhe veshka (proteolize) diagnozes)
Prof. Asc. Etleva Refatllari 8 •Gjejme prevalence e larte e antigeneve HLADR3 dhe DR4
Veprimi i PTH Prof. Asc. Etleva Refatllari
• Ne kocka – efekti neto eshte destruksioni i kockes me clirim te Ca, 6
fosfateve dhe produkteve te kolagenit (ekskretimi i Diabeti i tipit te dyte
hidroksiprolines) Prof. Asc. Etleva Refatllari
– Ne perqendrime te uleta PTH ka efekt anabolik, rimodelim 7
kockor • Diabeti i tipit te dyte shfaqet ne pergjithesi ne
• Ne veshka moshen adulte – Diabet i te rriturve
– Rrit riperthithjen e Ca • Eshte rezultat i uljes se sekretimit te insulines e
– Ul ose nuk ndikon ne riperthithjen e fosfateve (efekt cila eshte gjithashtu me pak efikase ne veprim.
fosfaturik) Shkak eshte rezistenca e indeve periferike ndaj
– Rrit sintezen e kalcitriolit insulines – Diabet insulinorezistent,
• Ne zorre joinsulinovartes
– Mendohet se nuk ka efekt direkt • Trajtimi eshte kompleks dhe perfshin rregullimin e
– Vit D aktive stimulon absorbimin intestinal te Ca
Prof. Asc. Etleva Refatllari 9
• Kur Ca++ ne serum ulet, rritet perqendrimi i PTH qe:
– Stimulon levizjet e Ca dhe P nga kocka ne gjak
– Rrit reabsorbimin e Ca ne veshka (del vetem P)
– Nxit sintezen ne veshka te kalcitriolit
– Kalcitrioli rrit perthithjen e Ca ne zorre
• Kur Ca++ ne serum eshte i larte:
– Frenohet sinteza e kalcitriolit
– Frenohet sinteza dhe sekretimi i PTH
– Ulet reabsorbimi i Ca ne zorre, ulet veprimi i PTH ne veshka
dhe zorre
– Ne disa specie stimulohet prodhimi i kalcitonines
Prof. Asc. Etleva Refatllari 10
Kalcitrioli
Struktura dhe sinteza e vit. D
Prof. Asc. Etleva Refatllari 11
• Vit D njihet per rolin e rendesishem ne ruajtjen e
perqendrimit te Ca dhe P si dhe ne mineralizimin e
kockes
• Deficiti i vit D shkakton rakit (tek femijet) ose
osteomalaci (adult)
• Forma aktive e vit D eshte 1,25 dihidroksi kolekalciferoli
qe prodhohet ne veshka nga enzima α1 hidroksilaze.
Aktiviteti i α1 hidroksilazes (aktivizimi i vitamines D)
stimulohet nga:
– Hipokalcemia
– Hipofosfatemia
– Hiper PTH
Prof. Asc. Etleva Refatllari 12
Veprimet metabolike te vit D
– Stimulon absorbimin intestinal te Ca dhe P
– Shton absorbimin renal te Ca dhe P (shton
veprimin e PTH)
– Rregullon levizjet e Ca dhe P ne kocka (drejt
zonave te reja te mineralizimit)
Kalcitonina
– Sintetizohet dhe sekretohet nga qelizat parafolikulare te
tiroides
– Ka natyre peptidike
higjenes se jeteses (menyren e ushqyerjes, stilin
e jetes etj.) si dhe trajtime medikamentoze
(preparate hipoglicemiante, insuline).
Diabeti i tipit te dyte
Prof. Asc. Etleva Refatllari
8
Te dhena klinike
• Zakonisht nuk ka simptoma te hershme; ka nje faze
presimptomatike te gjate para diagnozes (prediabet)
• Diagnostikohet zakonisht pas moshes 40 vjec; eshte ulur
mosha e shfaqjes; diagnostikohet dhe ne moshat 30 – 40
vjec
• Shpesh shoqerohet me obezitet
• Historia familjare shume prezente
• Shpesh diagnostikohet pas instalimit te komplikacioneve
(p.sh. Kardiake)
• Shenjat te ngjashme me diabetin tip 1
• Pergjithesisht rezistente ndaj ketozes; ketoza mund te
zhvillohet vetem ne situata te caktuara stresi
• Rezistence ndaj veprimeve te insulines
Diabeti i tipit te dyte
Prof. Asc. Etleva Refatllari
9
Te dhenat laboratorike
• Glukoze esell e larte (>126mg/dL)
• Testi i tolerances jonormal
• Glukozuri (variabel)
• Hemoglobina e glukozuar e shtuar
• Nivele te ndryshme te insulines
• Ulje e numrit te receptoreve te insulines ne inde te
ndryshme.
Rezistenca ndaj insulines
•Rezistenca ndaj insulines eshte nje situate e
lidhur kryesisht me mbipeshen ne te cilen
muskuli, hepari dhe indi dhjamor nuk e perdorin
me efikasitet insulinen.
•Si rezultat organizmi kerkon me shume insuline
per te futur glukozen ne qeliza.
•Ne fillim pankreasi adaptohet duke prodhuar me
shume insuline; me kalimin e kohes pankreasi
– Sekretimi stimulohet nga shtimi i perqendrimit ne serum humbet aftesine per te prodhuar mjaftueshem
te Ca++ insuline pas ngrenieve. Rezultati eshte
– Veprimi madhor fiziologjik eshte frenimi i rezorbimit hiperglicemia.
kockor Prof. Asc. Etleva Refatllari
Prof. Asc. Etleva Refatllari 13 10
Prof. Asc. Etleva Refatllari 14 Diabeti i barres
Permbledhje e veprimit hormonal ne •Diabeti i shfaqur vetem gjate shtatzanise.
metabolizmin e Ca •Zhvillohet ne rreth 7% te shtatzanive dhe ngjan
PTH Vit D Kalcitonine me diabetin e tipit te dyte
Stimuli per •Shton riskun per komplikacione fetale dhe te
sekretim nenes gjate shtatzanise dhe lindjes
↓ Serum [Ca2+] ↓ Serum [Ca2+] •Gruaja mund te shfaqe me vone diabet te tipit te
↓ Serum fosfat dyte
↑ PTH •Rekomandohet depistimi ne te gjitha grate ne
↑ Serum [Ca2+] javen 24 – 28 te barres
Veprimi ne: •Testet e skrinimit jane glicemia esell dhe dy ore
Kocka pas ushqimit
Veshka Prof. Asc. Etleva Refatllari
Zorre 11
↑ rezorbimi Diabeti i barres
↓ reabsorbimi i P •Hormonet qe prodhohen gjate shtatzanise rrisin
(↑AMPc urinare) sasine e insulines qe kerkohet per te kontrolluar
↑ reabsorbimi i Ca2+ perqendrimin e glukozes ne gjak.
↑ absorbimi i Ca2+ •Nese organizmi nuk i pergjigjet nevojes se shtuar
(indirekt – vitD) per insuline, gruaja mund te zhvilloje diabet ne
↑ rezorbimi fazat e vona te shtatzanise.
↑ reabsorbimi i P •Kjo forme diabeti zakonisht zhduket pas lindjes.
↑ reabsorbimi i Ca2+ •Ne 5 – 10% te grave me diabet te barres, glicemia
↑ absorbimi i Ca2+ pas lindjes mbetet e larte; diabet i tipit 2
↑ absorbimi i P •Femijet qe lindin nga nena me diabet te barres,
↓ rezorbimi jane me te prekur nga obeziteti dhe diabeti i tipit 2.
Efekti neto: Prof. Asc. Etleva Refatllari
Serum [Ca2+] 12
Serum [fosfat] Toleranca e thyer ndaj glukozes
↑ •Gjendje prediabetike
↓ •Hiperglicemi (100 – 126 mg/dl) qe shoqerohet me
↑ rezistence ndaj insulines dhe risk te larte per
↑ semundje kardiovaskulare
↓ •Mund te paraprije diabetin e tipit te dyte per disa
Prof. Asc. Etleva Refatllari 15 vjet
Fosfori •Zhvillohet zakonisht ne mosha te shkuara
• 86% e fosforit qe gjendet ne organizem •Diagnoza vendoset me teste biokimike pasi
lokalizohet ne kocka (hidroksiapatit) mungon simptomatologjia
• Perqendrimi i fosforit ne gjak eshte 1.22 – 2.2 Prof. Asc. Etleva Refatllari
mmol/L 13
• Fosfori eshte i rendesishem per: Sindroma qe shoqerohen me hiperglicemi
– Strukturen dhe metabolizmin kockor • Heqja kirurgjikale e pankreasit ; Tumoret e pankreasit
– Strukturen e dhembeve • Cistet pankreatike, Hemoragjite e pankreasit
– Sintezen e ATP • Akromegalia, Sindromi Cushing
– Fosforilimin e karbohidrateve • Feokromocitoma
– Sintezen e ADN, ARN • Glukagonoma
– Sintezen e fosfolipideve membranore • Somatostatinoma
– Funksionin buferik te gjakut • Hiperaldosteronizmi primar
Prof. Asc. Etleva Refatllari 16 • Hipertiroidizmi
Fosfori • Hemokromatoza
• Nevojat ditore per fosfor – rreth 1.5 gram • Malnutricioni
• Burimet ushqimore – gjithe ushqimet; nuk ka • Medikamente dhe agjente kimike (p.sh. tiroksina, fenitoina)
deficit ekzogjen per fosforin • Rreth 25 sindroma te rralla gjenetike (p.sh. sindromi Down,
• Sasia e fosforit te absorbuar – rreth 70% e Sindromi Klinefelter).
fosforit te marre me ushqime; fosfori i marre Prof. Asc. Etleva Refatllari
nga peshqit absorbohet 100% 14
Prof. Asc. Etleva Refatllari 17 Risku i larte per diabet
Metabolizmi i magneziumit (Mg) A ka te dhena trashegimie?
• 55% e Mg gjendet ne skelet Vleresohet se ekziston nje grup genesh trashegimi i te cilave
• 1% e Mg gjendet ne hapesiren ekstraqelizore predispozon shfaqjen e diabetit. Predispozite nuk do te thote
• Mg ne serum llogaritet 0.7-1.0 mmol/L shfaqje e semundjes.
• Funksionet e Mg: Faktoret qe shoqerohen me risk te larte per diabet:
– Kofaktor enzimatik • Mosha e kaluar
– Aktivator i ATP (MgATP) • Sindromi metabolik
– Glikoliza • Toleranca e thyer ndaj glukozes
– Replikimi qelizor • Sindromi i ovarit polikistik
– Biosinteza proteinike • Pacientet me histori per diabet te barres ose lindjen e
• PTH shton reabsorbimin renal tubular te Mg bebeve mbi 4kg
• Homeostaza e Mg: kontroll ne nivel te eliminimit renal • Histori familjare per diabet
Prof. Asc. Etleva Refatllari 18 • Jeta sedentare
Hipokalcemia • BMI e larte (mbipeshe, obezitet)
Gjendja patologjike qe krijohet kur sasia e kalciumit • Obeziteti central
ne gjak eshte me e ulet se 2,35 mmol/l • Hipertension, Hiperlipidemi
Shkaqet: • Pacientet qe marrin preparate si prednisoni apo
• Hipoparatiroidizmi (primar, sekondar, terciar) antipsikotiket
• Pseudohipo PTH (shtimi i ndjeshmerise se receptoreve te Prof. Asc. Etleva Refatllari
PTH) 15
• Hiperfosfatemia, hipo Mg, hipoalbuminemi Komplikacionet e diabetit
• Hipovitaminoza D (deficit ose rezistence) • Retinopati me progresion deri ne humbje te shikimit
• Semundje te traktit gastrointestinal (diarre, steatorre) • Nefropati qe mund te shkoje deri ne insuficience
• Hiperprodhim i tireokalcitonines (kancer medular i tiroides) renale
• Semundje renale kronike (humbje te Ca dhe ulje e • Neuropati periferike e shoqeruar ne format e renda
ndjeshmerise ndaj PTH) me ulcera ne kembe, amputime etj.
• Pankreatit akut etj • Neuropati autonome qe shkakton disfunksione
Prof. Asc. Etleva Refatllari 19 gastrointestinale, genitourinare, kardiovaskulare,
Shfaqjet klinike - Hipokalcemi seksuale
• Tetani – konvulsione – arrest kardik – asfiksi (spazma •Incidence e larte e aterosklerozes kardiovaskulare, te
respiratore) arterieve periferike dhe semundjeve cerebrovaskulare
• Rakit •Incidence e larte e crregullimeve te metabolizmit te
– I fituar: mungese e vit D ne ushqim, ose lipoproteinave dhe hipertensionit
pamjaftueshmeri e sintezes (mosekspozim ne diell) Prof. Asc. Etleva Refatllari
– I lindur: defekt i sintezes renale te vit D ose rezistence 16
periferike ndaj vit D Depistimi per diabet ne persona
• Osteodistrofi asimptomatike
– Osteomalaci • Testimi per prani te diabetit tip 2 ne popullate
– osteoporoze asimptomatike duhet te merret ne konsiderate per
Prof. Asc. Etleva Refatllari 20 adultet e cdo moshe me mbipeshe ose obezitet dhe
Hiperkalcemia qe kane 1 ose me shume faktore risku per diabet
• Gjendje patologjike kur Ca ne gjak eshte mbi 2,75 • Ne personat adulte pa faktore risku testimi fillon pas
mmol/L moshes 45 vjec
• Shtohet fluksi i Ca2+ ne ECF prej skeletit, veshkes apo • Nese testimi eshte normal – perseritje cdo 3 vjet
zorres • Ne ata qe rezultojne prediabetike, rekomandohet
• Shenjat klinike identifikimi dhe trajtimi i semundjeve kardiovaskulare
– Letargji, paralize, vdekje Prof. Asc. Etleva Refatllari
– Nause 17
– Te vjella Faktoret e riskut shoqerues te
– Gure obezitetit qe predispozojne per diabet
– Poliuri • Inaktiviteti fizik
• Shenjat lidhen me perqendrimin • Histori familjare(prinder, kusherinj te pare me diabet)
• Ca> 3mmol/L : gure urinare • Prejardhje racore/ etnike me risk te larte (p.sh.
Prof. Asc. Etleva Refatllari 21 afroamerikane, latine, ishujt e pacifikut etj)
Shkaqet e hiperkalcemise • Gra qe kane lindur bebe me peshe mbi 4 kg
• 95% e rasteve me hiperkalcemi shkaktohen nga: • Hipertensioni
– Hiperparatiroidizmi primar • HDL kolesteroli i ulet, Trigliceridet e larta
– Semundjet malinje • HbA1c ≥ 5.7%
– Hipervitaminoza D
• Shkaqe te tjera jane:
– Crregullimet endokrine – hiper-hipotiroze; semundje
adrenale akute
– FHH (hipokalciurik hiperkalcemia familjare)
– Demtimet renale
– hiperCa idiopatike e femijerise
– Semundjet granulomatoze si sarkoidoza dhe tuberkulozi
– Diuretiket Chlorthiazide ,Lithium etj
Prof. Asc. Etleva Refatllari 22
Hiperparatiroidizmi (hiper PTH)
• Hiperparatiriodizmi - prania ne qarkullim e PTH
biologjikisht aktiv kur Ca ne serum eshte ≥ se 10.5
mg/dl
• Hiper PTH primar – shkaku me i zakonshem –
adenoma unike ose multiple e paratiroides
• Hiper PTH sekondar – gjendra behet hiperplazike nga
hiperstimulimi i zgjatur (prej hipokalcemise); PTH ↑,
Ca↑
• Hiper PTH terciar – hiperprodhim i PTH si rezultat i
funksionimit autonom te gjendres pas hiperstimulimit
te zgjatur; PTH mbetet e larte dhe pas korrigjimit te
Ca
Prof. Asc. Etleva Refatllari 23
• Pasojat e hiperPTH:
– Osteoporoze
– Semundje renale
– Gure
• Diagnoza diferenciale e hiper PTH primare me FHH
• FHH (hiperkalcemia hipokalciurike familiare) –
mutacion autosomal dominant i receptoreve sensore
te Ca
– Hiperkalcemi asimptomatike
– PTH normal ose pak i rritur
– Eliminim i ulur i Ca ne urine
Prof. Asc. Etleva Refatllari 24
Manifestimet klinike te hiperkalcemise
• Kalcinoza – akumulim i kriperave te kalciumit
ne indet e buta
• Alkaliniteti ndihmon formimin e kriperave te
• Kushte klinike te lidhura me rezistencen ndaj insulines
• Histori pozitive per prani te semundjeve kardiovaskulare
• Sindroma klinike si ovari polikistik
Prof. Asc. Etleva Refatllari
18
Kriteret e depistimit per prani te diabetit tip 2
ne femije asimptomatike (nen 18 vjec)
• Mbipesha
–BMI > 85 percentile per moshen, dhe seksin
–Disproporcion peshe – gjatesi (> 85 perc.)
–Pesha > 120% e peshes ideale
• Plus dy nga faktoret e meposhtem te riskut
–Histori familjare (grade e pare, e dyte)
–Raca, etniciteti
–Shenja te rezistences ndaj insulines ose prani e kushteve
qe favorizojne rezistencen si hipertension, dislipidemi,
peshe e vogel ne lindje etj.
–Histori e nenes per diabet ose diabet te barres
• Fillimi i testimit - mosha 10 vjec ose fillimi i pubertetit;
perseritja cdo 3 vjet
Prof. Asc. Etleva Refatllari
19
Depistimi per diabetin e barres
• Ne grate shtatzana me faktor risku – testohet
per diabet ne viziten e pare
• Ne grate shtatzana qe nuk kane te dhena per
diabet – testimi ne javet 24 – 28
• Ne grate me diabet te barres – vazhdon testimi
6 – 12 jave pas lindjes duke perdorur testin e
ngarkeses
• Ne grate me histori per diabet barre
rekomandohet testimi gjate gjithe jetes, cdo tre
vjet
Prof. Asc. Etleva Refatllari
20
Testet e diagnoses dhe monitorimit
• Diabeti zakonisht diagnostikohet bazuar ne
perqendrimin plazmatik te glukozes, qofte esell
qofte pas testit te tolerances
• Glicemia esell e mengjesit eshte testi me i
patretshme te Ca mire fillestar
• Format e kalcinozes: • Glukozuria nuk perdoret zakonisht per qellim
– Metastatike: vazat e gjakut, miokard valvulat e diagnostik
zemres etj. • Kohet e fundit eshte futur si opsion i trete
– Distrofike: tuberkuloz, infarkt, fokuse inflamatore diagnostik HbA1c ≥ 6.5%
kronike Prof. Asc. Etleva Refatllari 21
– Metabolike: depozita ne lekure, tendine, fascie etj. Kriteret e diagnozes sipas ADA
Prof. Asc. Etleva Refatllari 25 1. Glicemia esell ≥ 126mg/dL (7.0 mmol/l)
Hiperfosfatemia 2. Glicemia 2 ore pas testit te ngarkeses me 75gr
• Perqendrimi plazmatik i fosfatit > 2.2 mmol/L glukoze ≥ 200 mg/dl (11.1mmol/l)
• Shkaqet: 3. HbA1c ≥ 6.5% (48mmol/mol)
– Ulja e eliminimit renal si pasoje e uljes se GFR p.sh. ne 4. Glicemia “random” ≥ 200mg/dl ne individe me
semundjet renale kronike ose shtimit te reabsorbimit simptoma te hiperglicemise dhe kriza hiperglicemike
(p.sh. Hipo PTH, akromegali, hipertiroze etj) Interpretimi
– Shtimi i marrjeve: orale ose IV si p.sh. Gjate perdorimit te • Rezultat i paqarte? – testi perseritet me kampion tjeter
laksativeve me permbajtje fosfati ose intoksikimi me vit • Testi i perseritur pozitiv = diagnoza e konfirmuar
D • Teste te ndryshme me rezultate mbi norme =
– Liza qelizore: rabdomioliza, hemoliza intravaskulare, diagnoza e konfirmuar
terapia citotoksike, leucemi, limfoma • Rezultate diskordante te testeve te ndryshme →
– Acidoza laktike, respiratore, ketoacidoza diabetike perseritet testi me rezultat mbi norme
– Perdorimi i shtuar ne kocka, p.sh. Riparimi pas frakturave Prof. Asc. Etleva Refatllari 22
ose tumore kockore Risku i shtuar per diabet - Prediabeti
Prof. Asc. Etleva Refatllari 26 Per te gjitha testet risku eshte i pranishem ne te gjithe
Hiperfosfatemia diapazonin e vlerave por me i larte ne vlerat e larta.
• Shtimi i fosfateve mund te shkaktoje ulje te Prof. Asc. Etleva Refatllari
perqendrimit te Ca ne gjak si pasoje e 23
formimit te komplekseve midis tyre Glukoza esell Glicemi 2 ore
• Per pasoje ulet perqendrimi i Ca te jonizuar pas ngarkeses
(formes aktive) HbA1c
• Klinika dominohet nga hipokalcemia 100 – 125 mg/dl
• Tetani, konvulsione (5.6 – 6.9 mmol/l)
Prof. Asc. Etleva Refatllari 27 Tolerance e thyer
Hipofosfatemia 140 – 199 mg/dl
• Perqendrimi plazmatik i fosfateve eshte me i ulur (7.8 – 11 mmol/l)
se 1.2 mmol/L Tolerance e thyer
• Shkaqet: 5.7 – 6.4%
– Ulja e pragut renal (hiper PTH primare, defekte (39 – 46 mmol/mol)
tubulare, anemia Fanconi) Metoda e matjes se glukozes
– Ulja e absorbimit gastrointestinal nga humbjet (te •Per matjen e perqendrimit te glukozes ne gjak,sot
vjella, diarre, perdorim i antacideve qe lidhin P) ose perdoret metoda me glukoze oksidaze qe
ulja e absorbimit (malabsorbim, deficit i cit D) shfrytezon reaksionin:
– Perdorimi i insulines per trajtimin e diabetit (shtohet •Glukoze + O2 → D-glukono 1.5-lactone + H2O2
perdorimi qelizor per fosforilimin e glukozes) •Perqendrimi i glukozes percaktohet duke matur
– Hipovitaminoza D sasine e H2O2
– Semundjet hepatike te prodhuar nga bashkeveprimi i
– Rivendosja e ushqyerjes pas urise se zgjatur glukozes me enzimen. Per te realizuar kete
Prof. Asc. Etleva Refatllari 28 matje, ne perzjerjen e reaksionit shtohet dhe
Hipofosfatemia enzima peroksidaze dhe nje substrat specifik qe
• Eshte crregullim i zakonshem duke reaguar me H2O2
• Jep dobesi muskulare, respiratore dhe ulje te formojne nje produkt me
debitit kardiak ngjyre. Intensiteti i ngjyrimit matet ne
• Crregullimi i zgjatur ne kohe jep: spektrofotometer dhe eshte proporcional me
– Rakit tek femijet perqendrimin e glukozes.
– Osteomalaci tek te rriturit Prof. Asc. Etleva Refatllari 24
Prof. Asc. Etleva Refatllari 29 Glicemia esell
Hipermagnezemia Hipomagnezemia • Matja e glukozes esell jep informacion per aftesine
• Shkaqet: e nivelit bazal te insulines per kontrollin e
– Marrje e tepruar glikogjenolizes dhe glukoneogjenezes.
– Terapi me antacide • Kur prodhimi bazal (ose veprimi) i insulines eshte i
– Terapi parenterale pamjaftueshem, kemi hiperglicemi esell.
• Simptomat: Pregatitja e pacientit
– Depresion i sistemit • Gjaku per dozimin e glicemise merret ne mengjes,
neuromuskulor esell. Diten perpara ekzaminimit pacienti perdor
– Depresion respirator dieten e zakonshme, ha nje darke te lehte rreth
– Arrest kardiak ores 19. Eshte e rendesishme qe te pakten pas
• Takohet shpesh ne mesnate te mos marre ushqim (8 ore).
paciente me crregullime Prof. Asc. Etleva Refatllari
multiple elektrolitike 25
(hipokaliemi dhe hipo Konsiderata preanalitike
fosfatemi) • Gjaku duhet te centrifugohret brenda 30 min pasi
• Magnezi konkuron me eritrocitet bejne glikolize. Ritmi i glikolizes ex vivo
Ca per hyrjen ne raportohet 5 – 7% ne ore; d.m.th. perqendrimi i
neurone glukozes ne kampion ulet rreth 10mg/dl ne ore.
• Rritet eksitabiliteti Kjo con ne gabime diagnostike (pacienti diabetik
neuromuskular referohet normal)
Prof. Asc. Etleva Refatllari 30 • Nese nuk mundemi te bejme centrifugim te
Rimodelimi kockor shpejte, gjakun e marrim me sodium florid qe
• Rimodelimi kockor eshte nje proces i frenon glikolizen.
mirekontrolluar i perbere nga dy komponente: • Glicemia matet dhe ne gjakun total me testet e
– rezorbimi qe realizohet nga qelizat osteoklaste shpejta (stripet e glicemise); perqendrimi i
– formimi qe realizohet nga qelizat osteoblaste
– Prishja e kesaj balance shoqerohet me modifikim te
turnoverit kockor duke rezultuar ne humbje te mases
kockore ose formim te shtuar kockor me pasoja per
sistemin skeletik dhe organizmin ne pergjithesi.
• Gjatë remodelimit kockor, osteoklastet
demineralizojne dhe resorbojne kocken e vjeter
dhe osteoblastet depozitojnë kocka të reja për të
mbajtur një masë kockore të përshtatshme për
streset me te cilat perballet skeleti.
Prof. Asc. Etleva Refatllari 31
Prof. Asc. Etleva Refatllari 32
Rimodelimi kockor
• Vecori e kockave, e cila vazhdimisht rezorbon kockën e
vjetër dhe formon kocka të reja, e bën ate një ind shumë
dinamik që lejon ruajtjen, riparimin e indeve të dëmtuara
dhe homeostazën e metabolizmit fosfokalcik.
• Remodelimi i kockave ndodh gjatë gjithë jetës, por deri
në dekadën e tretë bilanci është pozitiv. Në dekadën e
tretë, masa e eshtrave arrin maksimumin e saj dhe kjo
mbahet me variacione të vogla deri në moshën 50
vjeçare. Që atëherë, mbizotëron resorbimi dhe masa e
kockave fillon të ulet.
• Ritmi i rimodelimit kockor eshte me i larte ne grate ne
periudhen perimenopauzale dhe postmenopauzale te
hershme. Situate stabilizohet me plakjen por ritmi
mbetet me i larte se para menopauzes.
Prof. Asc. Etleva Refatllari 33
Rregullimi i metabolizmit skeletik
• Metabolizmi skeletik rregullohet nga qelizat e kockave (osteoblastet,
osteocitet dhe osteoklastet) dhe paraardhësit e tyre. Monocitet,
makrofagët dhe mastocitet gjithashtu mund të ndërmjetësojnë
aspekte të caktuara të metabolizmit skeletik.
• Osteoblastët shprehin receptorët ndaj shumë agjentëve aktivë të
kockave si:
– PTH
– proteina të lidhura me hormonin parathyroid (PTHrP)
– metabolitëve të vitaminës D
– steroideve gonadale dhe te mbiveshkoreve
– hormoneve te tiroides dhe GH
glukozes eshte rreth 11% me i larte ne plazem se
ne gjakun total (hematokrit normal)
Prof. Asc. Etleva Refatllari
26
Glicemia esell – Interpretimi i vlerave
• Vlerat e glicemise <105mg/dL konsiderohen normale.
(rekomandimet e reja japin vleren 100 si kufi te
normes)
• Vlerat nga 106 – 125mg/dL flasin ndofta per nje
tolerance te thyer per glukoze ; ne kete rast ka
indikacion per kryerjen e proves se ngarkeses me
glukoze.
• Glicemia > 126mg/dL ne dy matje te perseritura flet
per pranine e diabetit.
• Ka nje lidhje direkte midis kontrollit te glicemise dhe
riskut per komplikacione renale, retinale dhe
neurologjike.
Prof. Asc. Etleva Refatllari 27
Vetemonitorimi i glicemise
•Realizohet nga vete pacienti me glukometer
•Rekomandohet per te gjithe pacientet qe trajtohen
me insuline; testi duhet bere 3 here ne dite
•Ne pacientet me diabet tip2 te trajtuar me diete
dhe preparate orale monitorimi ndihmon per nje
kontroll me te mire.
•Pacientet duhen instruktuar per perdorimin korrekt
te glukometrit perfshi dhe kontrollin e kualitetit
Prof. Asc. Etleva Refatllari
28
Prova e ngarkeses me glukoze
• Testi mat aftesine sekretuese dhe pergjigjen ne
kohe te qelizave prodhuese te insulines ndaj
sinjaleve te integruar te hormoneve
gastrointestinale dhe shtimit te perqendrimit te
glukozes plazmatike.
• 75g glukoze perdoren si ngarkese ne kete test.
Ato nuk perbejne nje vakt normal ushqimi por
bejne qe testi te kete ndjeshmeri maksimale
dhe te perdoret per qellime diagnostike dhe
epidemiologjike.
– citokinave dhe faktorëve të rritjes Prof. Asc. Etleva Refatllari
• Produkti kryesor i osteoblasteve është kolageni i tipit 1, i cili, së 29
bashku me proteina të tjera, formon matriKSIN osteoid organik që Pregatitja e pacientit
mineralizohet në hidroksapatit (kombinim i Ca me P). • Pacienti vendoset per 3 dite ose me shume ne nje
Prof. Asc. Etleva Refatllari 34 diete normale qe permban te pakten 150g
Rregullimi i metabolizmit skeletik karbohidrate ne dite. Ne mengjes esell (12-14 ore
Prof. Asc. Etleva Refatllari 35 pa ushqim), pacientit i jepet te pije nje solucion ku
Osteoporoza eshte tretur 75 g glukoze e paster. Pacienti duhet
• Crregullim sistemik ta pije perzjerjen brenda 5 minutash.
• Karakterizohet nga ulja masës kockore dhe • Gjaku merret ne kohen 0 (para pirjes se glukozes)
dëmtimi strukturor i indit kockor dhe ne minuten 120. Ne pacientet me
• Rritet brishtësia dhe ndjeshmëria e kockave malabsorbim, pacienti mund ta marre intravene
ndaj frakturave. solucionin e glukozes.
• Frakturat osteoporotike janë një shkak i Prof. Asc. Etleva Refatllari 30
rëndësishëm i sëmundshmërise dhe Interpretimi i testit te ngarkeses
vdekshmërisë. • Vlerat ne tabele jane ne “mg/dl”, njesi tradicionale qe akoma
Prof. Asc. Etleva Refatllari 36 perdoret gjeresisht ne klinike
Prof. Asc. Etleva Refatllari 37 • 100 apo 105 eshte kufiri maksimal i normes? Tek ne perdoret vlera
Percaktimi i osteoporozes nga OBSH 105; ka shoqata diabetologjike qe rekomandojne vleren 100.
• Aktualisht dendësia minerale e kockave (BMD) është standardi i Prof. Asc. Etleva Refatllari
OBSH për diagnozën e osteoporozës. 31
• Osteoporoza jep manifestime klinike kur vlera e mases kockore ne Normal
DXA (metoda e matjes) eshte <-2.5 SD (deviacion standart) nga (mg/dl)
piku i mases kockore (BMD maksimale e adultit) Tolerance e thyer
• Rezultati i BMD matet me T-score, qe eshte deviacioni standard i (mg/dl)
BMD prej mesatares se moshes 35 vjec (ne perputhje me seksin) Diabet
• Per cdo ulje me 1 te T-score – dyfishohet risku per frakture (mg/dl)
Prof. Asc. Etleva Refatllari 38 Koha 0 <100 100 – 126 ≥ 126
Shpeshtesia e osteoporozes 120 min <140 140 – 200 ≥ 200
• Osteopenia dhe osteoporoza takohen ne >50% te Interpretimi i testit te ngarkeses
grave mbi 50vjec dhe ne 30 – 45% te burrave mbi Prof. Asc. Etleva Refatllari
50vjec 32
• Grate mbi 50vjec: Ketoacidoza diabetike
– 50% kane risk te bejne fraktura osteoporotike •Ketoacidoza diabetike eshte urgjence mjekesore.
– 25% kane risk per fraktura vertebrale •Faktoret me te shpeshte precipitues qe shkaktojne
– 15% kane risk per frakture te femurit crregullimin e balances energjitike dhe shfaqjen e
• 20% e pacienteve me kete frakture mund te vdesin brenda vitit ketoacidozes ne nje pacient diabetik jane,
• 25 – 30% e pacienteve me kete frakture kerkojne trajtim infeksioni, infarkti i miokardit, trauma, mosmarrja e
infermieror te vecante. insulines.
– Burrat mbi 60 vjec: 25% kane risk per fraktura •Trajtimi i ketoacidozes diabetike behet me lengje
osteoporotike
Prof. Asc. Etleva Refatllari 39
Faktoret favorizues
• Mosha
• Deficiti estrogjenik
• Deficiti i testosteronit
• Histori familiare gjenetike
(kushurinj te pare)
• Histori personale per
frakture
• Seksi femer
• Jeta sedentare
• Marrja e paket e Ca-Vit D
gjate jetes
• Perdorimi i duhanit dhe
alkolit
• Peshe e ulet trupore –
anoreksi
• Hipotiroze
• Hiperparatiroidizem
• Semundje te renda hepatike
(ulet vit D)
• Ekspozimi i paket ne diell
• Semundje malinje me
metastaza ne kocke ose te
tilla si mieloma multiple qe
shoqerohet me osteopeni
Prof. Asc. Etleva Refatllari 40
Semundje me risk te larte per
osteoporoze
• Semundje pulmonare
obstruktive
• Cushing
• Malabsorbim
• Hyper PTH
• Hupofosfatazia
• Sindrom i zorres se irrituar
• Artrit reumatoid
• Semundje autoimune te
indit lidhor
intravenoze, insuline dhe kalium.
Prof. Asc. Etleva Refatllari 33
• Ketoza reflekton perdorimin e shtuar te yndyrnave si
burim energjie per shkak te deficitit intraqelizor te
glukozes ose aktivitetit insulinik te ulur.
• Aktiviteti i ulur i insulines ne nje pacient diabetik shton
ritmin e prodhimit te substrateve te glukoneogjenezes
dhe glukoneogjenezen hepatike.
• Ne gjendje urije ky fenomen kontribuon ne rritjen e
glicemise dhe te perdorimit te saj energjitik ne inde.
• Ne nje pacient diabetik shton hiperglicemine (glukoza
nuk futet ne qelize) dhe prodhimin e perdorimin indor te
trupave ketonike.
• Trupat ketonike mund te testohen:
• ne gjak (ketonemia)
• ne urine ( ketonuria)
Prof. Asc. Etleva Refatllari 34
Insulina
•Insulina eshte hormoni kryesor qe ndikon ne nivelet
e glukozes ne gjak.
•Ajo prodhohet ne qelizat beta te ishujve
Langerhans te pankreasit dhe vepron permes
receptoreve membranore ne indet « shenje » te
veprimit te saj sic jane melcia, muskujt dhe indi
dhjamor duke futur glukozen ne qelize.
•Insulina sinjalizon gjendjen e ushqyerjes.
•Ajo aktivizon rruget dhe proceset e perfshira ne
depozitimin e rezervave energjitike ne qelize dhe
frenon rruget katabolike.
Prof. Asc. Etleva Refatllari 35
Shtimi i glukozes ne gjak pas ushqyerjes detektohet
nga qelizat beta te cilat prodhojne insuline
Insulina nxit : Insulina frenon :
• Kapjen e glukozes ne muskuj
dhe ind dhjamor
• Glikolizen
• Sintezen e glikogjenit
• Sintezen e proteinave
• Kapjen e joneve (sidomos K
+
• Diabet dhe PO4
• Skleroza multiple 3-
Medikamentet qe ulin )
masen kockore • Glukoneogjenezen
• Alumin • Zberthimin e glikogjenit
• Antikonvulsivante • Lipolizen
• Citostatike • Ketogjenezen
• Glukokortikoide • Proteolizen
• Imunosupresore Prof. Asc. Etleva Refatllari 36
• Analoge te GNRH Insulina dhe Peptidi
• Litium C
• Heparina (perdorim Insulina sintetizohet si
kronik) proinsuline. Ajo perbehet nga
• T4 ne doza te larta peptidet A,
• Frenuesit e aromatazes B dhe
• Depo-provera (forme C
progesteroni) .
Prof. Asc. Etleva Refatllari 41 Ne ishujt beta te pankreasit
Diagnoza ,
• DEXA – matje e BMD: qellimi i matjes – parandalimi i riskut per proinsulina shnderrohet ne
fraktura, jo thjesht trajtimi. Ne tabele jepen indikacionet per DEXA insuline pas shkeputjes se
Prof. Asc. Etleva Refatllari 42 peptidit
Diagnoza laboratorike C.
• Vlere te kufizuar per venien e diagnozes Insulina dhe peptidi
• Markuesit e turnoverit kockor si telopeptidi i C
kolagenit, perdoren me teper per te monitoruar sekretohen ne sasi
efektet e trajtimit ekuimolekulare.
• Luan rol per perjashtimin e shkaqeve sekondare si: Gjysme jeta
– Hipertiroza e peptidit
– Hiper PTH C eshte
– Ulja e estrogjeneve dhe testosteronit me
– Malinjiteti e gjate se
– Deficiti i Ca dhe vit D e insulines
– Mieloma multiple .
Prof. Asc. Etleva Refatllari 43 Po ashtu
Trajtimi , peptidi
• Marrje adekuate Ca – Vit D C nuk vepron
– Doza e rekomanduar e Ca: 1000mg/dite; per grate pas me antikorpet antitiroidiene
menopauzes doza mund te rritet ne 1500mg/dite .
– Vit D rekomandohet te merret jo me pak se 400UI/dite; Prof. Asc. Etleva Refatllari 37
doza rritet ne 800UI/dite kur nuk ekspozohesh ne diell Insulina dhe Peptidi C
• Ushtrim fizik per renie ne peshe + forcim te • Struktura primare e insulines humane ngjan me insulinat e
muskulatures per reduktim te riskut (forcimi i specieve te tjera; mbetjet aa jane pothuaj identike ne te gjitha
muskulatures mban kockat ne tension duke stimuluar pozicionet me perjashtim te pozicioneve A8, A9, A10, B30.
remodelimin ne favor te formimit) Megjithe diferencat ne keto pozicione, funksioni biologjik eshte
• Eliminim i perdorimit te duhanit dhe alkolit i njejte.
• Mjekim me preparate • Diferencat strukturore mund te nxisin pergjigje imune (prodhim
Prof. Asc. Etleva Refatllari 44 te antikorpeve antiinsuline) kur pacienti diabetik trajtohet me
Trajtimi - Bifosfonatet insuline te derrit apo te kaut; per pasoje pacienti zhvillon
Preparate Antirezorbues; lidhen ne kocke ne siperfaqet rezorbuese aktive rezistence ndaj insulines
dhe frenojne osteoklastet • Insulina sintetizohet sot me teknologjine rikombinante te ADN
Sipas FDA perdoren per: per qellime terapeutike.
• Parandalim dhe trajtim te osteoporozes pas menopauzes • Dozimi i peptidit C dhe insulines nuk ka vlere te madhe per
• Trajtim te osteoporozes nga glukokortikoidet diagnozen e diabetit. Testet kane vlere per klasifikimin e
• Trajtim per te rritur masen kockore ne burrat me osteoporoze diabetit dhe qellime kerkimore.
• Trajtim i semudjes Paget • Peptidi C reflekton prodhimin endogjen te insulines; preparati
Kunderindikime eshte insuline aktive dhe nuk permban peptid C.
• Anomali te ezofagut • Dozimi i peptidit C ka vlere te madhe per te percaktuar
• Pamundesi per te qendruar kapacitetin residual sekretor te qelizave beta tek pacientet
30min ndenjur ose ne me terapi te ndryshme perfshi dhe insulinen.
kembe Prof. Asc. Etleva Refatllari 38
• Risk aspirimi Prodhimi i insulines me teknologjine
• Hipokalcemi rekombinante te ADN
• Insuficience renale 39
Prof. Asc. Etleva Refatllari 45 Prof. Asc. Etleva Refatllari
Efektet anesore Glukozuria
• Hipokalcemi • Glukoza shfaqet ne urine kur glicemia kalon 180mg/dL ne
• Hipofosfatemi gjak (kalon pragun renal). Testi me i zakonshem, eshte ai
• Dhimbje muskuloskeletike gjysme sasior (testi rutine i analizes se urines). Tek nje
• Crregullime gastrointestinale diabetik, zakonisht gjejme glukozuri 0.5 – 2 g/dL
• Osteonekroza (ne formulimet intravene, • Ka dhe nje seri shkaqesh jodiabetike qe mund te shoqerohen
semundje dentare) me glukozuri
Trajtimi • Nuk rekomandohet si rutine monitorimi
• Estrogjenet Prof. Asc. Etleva Refatllari
– Reduktojne rezorbimin kockor; rezultat i provuar 40
– FDA: nuk rekomandohet ne mase pasi shton riskun per Glukozuri pa hiperglicemi Glukozuri me hiperglicemi
semundje kardiake, tromboze te venave te thella, kancer • Shtatzania
• Raloksifen – modulator selektiv i receptoreve estrogjenike; • Sindromi Fanconi
estrogjen agonist ne kocke – estrogjen antagonist ne gji dhe • Glukozuria renale
uterus • Sindromi nefrotik
– Ul rezorbimin kockor • Tirotoksikoze
– Nuk ka risk per kancer • Sindrom Kushing
– Jep simptoma vazomotore • Demtimi i SNQ
– Perdoret ne grate qe nuk tolerojne bifosfonatet • Infeksioni
Prof. Asc. Etleva Refatllari 46 • Anestezia
Trajtimi • Eksitimi dhe stresi
• Kalcitonina Hemoglobina e glukozuar; HbA1c
– Frenon rezorbimin kockor • Hemoglobina A ne qarkullim ( gjysme jeta e RBC eshte 120
– Nxit eliminimin renal te Ca, P, Na, Mg, K duke ulur reabsorbimin tubular dite); glikozilohet permes nje reaksioni joenzimatik te
• PTH (teriparotide) – pse perdoret kur njihet lidhja hiper PTH- pakthyeshem.
osteoporoze??? • Shkalla e glikozilimit eshte proporcionale me perqendrimin e
– Ne doza te vogla (intermitent PTH) sjell permiresim te densitetit kockor glukozes ne gjak.
(rrit BMD) dhe ul riskun per frakture • Perqendrimi i HbA1c ne RBC reflekton glikozilimin e Hb gjate
• Stimulon osteoblastet 120 diteve dhe rrjedhimisht perqendrimin e glukozes ne gjak
• Shton absorbimin e Ca ne zorre dhe reabsorbimin tubular gjate kesaj periudhe.
• Rrit turnoverin kockor ne favor te formimit • Dozimi i hemoglobines se glukozuar eshte nje test
– Perdoret ne burrat hipogonadale me osteoporoze, ne osteoporozat e retrospektiv me vlere te pazevendesueshme ne
renda, ne personat qe nuk tolerojne bifosfonatet apo me bifosfonate per 7 monitorimin e terapise ne diabet per 6-8 javet e fundit.
– 10 vjet. • Vlerat referente te HbA1c : 3,8 – 6,3 %
– Nuk perdoret ne kombinim me bifosfonate(duhen nderprere te pakten • Kujdes! Vlerat 5,7 – 6,4% konsiderohen “prediabet”
prej • Pacientet me hemolize kane vlere me te ulur te HbA1c per
nje viti) shkak te gjysme jetes me te shkurter te eritrociteve.
– Ne studime me minj: jep osteosarkome po u perdor mbi 2 vjet • Dozimi i HbA1c te pakten 2 here ne vit eshte i detyruar
Prof. Asc. Etleva Refatllari 47 per te gjithe pacientet diabetike per vleresimin e
kontrollit te glicemise
Prof. Asc. Etleva Refatllari
41
Markuesit gjenetike
•Matja ne rutine e markuesve gjenetike nuk ka
vlere per diagnozen ose menazhimin e diabetit
tip1.
•Per disa sindroma diabetike si diabeti neonatal
mund te kete vlere informacioni i fituar nga
percaktimi i mutacioneve
•Testet gjenetike nuk kane vlere per diagnozen e
diabetit tip2.
Prof. Asc. Etleva Refatllari
42
Markuesit autoimune
• Antikorpet (Ac) ndaj ishujve te pankreasit
rekomandohen ne skrinimin e familjareve
jodiabetike qe duan te dhurojne pjese te
pankreasit te tyre per transplant.
•Nuk rekomandohen per diagnozen rutine te
diabetit por mund te perdoren per klasifikimin e
diabetit ne te rriturit dhe ne studimet prospektive
te femijeve me risk gjenetik per diabet tip1 pas
tipizimit te HLA.
•Depistimi i diabetikeve tip2 per Ac ndaj ishujve te
pankreasit nuk eshte i rekomanduar.
Prof. Asc. Etleva Refatllari
43
Testet laboratorike per te parandaluar
shfaqjen e komplikacioneve te diabetit
• Shkaku me i shpeshte i vdekjeve ne pacientet diabetike
jane komplikacionet makrovaskulare e vecanerisht
semundjet kardiovaskulare
• Semubdshmeria kardiovaskulare influencohet nga
faktoret e njohur te riskut per CAD dhe kontrolli i
glicemise
• Lipidograma esell rekomandohet cdo tre muaj deri ne
stabilizim dhe me pas cdo 6 - 12 muaj
• Menazhimi eshte individual
• Testet monitoruese:
• Kolesterol total
• Triglicerid
• HDL dhe LDL kolesterol
• HbA1c
Prof. Asc. Etleva Refatllari 44
Albuminuria - mikroalbuminuri
• Mikroalbuminuria ne pacientet diabetike eshte e
lidhur me riskun e larte per semundje
kardiovaskulare; Makroalbuminuria (>200mg/dite)
shoqerohet me semundje renale qe mund te
progresoje ne insuficience renale terminale.
• Testimi vjetor i pacienteve pa proteinuri klinike duhet
te filloje ne periudhen pubertale ose postpubertale 5
vjet pas diagnozes se diabetit tip1 dhe ne kohen e
diagnozes per diabet tip2.
• Perqendrimi i albumines ne urine ≥ 30mg/g kreatinine
konsiderohet risk per semundje kardiovaskulare.
• Perqendrimi i ulet i albumines ne urine nuk
shoqerohet me risk kardiovaskular nese eGFR eshte
>60ml/min dhe ne paciente normotensive; ne
pacientet me hipertension, eGFR<60 dhe albuminuri
< 30mg/g Cre ne nje kampion urine – rekomandohet
perseritja e testit brenda vitit.
Prof. Asc. Etleva Refatllari
45
Albuminuria - mikroalbuminuri
Raporti Albumin:Creatinine (ACR)
• ACR vlereson ekskretimin ditor urinar te albumines
• ACR matet zakonisht ne urinen e pare te mengjesit
• Rezultati jonormal duhet te konfirmohet ne dy perseritje
Mikroalbuminuria
• nuk mund te detektohet me stripet e zakonshme te
urines
• eshte ekskretimi urinar i albumines ndermjet 20 dhe
200 mg/dite mbi
• 300mg/dite kemi proteinuria
Prof. Asc. Etleva Refatllari 46
Semundja diabetike renale
Rruga me e mire per te testuar komplikacionet renale ne nje
diabetik eshte testimi i raportit te ekskretimit
albumine/kreatinine(ACR), kreatinines plazmatike dhe GFR.
Keto teste behen ne cdo pacient te diagnostikuar me diabet
dhe perseriten te pakten cdo vit; me shpesh ne paciente me
proteinuri, mikroalbuminuri apo GFR te reduktuar
Prof. Asc. Etleva Refatllari 47
Stadi Pershkrimi GFR
(ml/min/1.73m2
)
1 Demtim renal me GFR N ose ↑ ≥ 90
2 Demtim renal me GFR pak te ulur 60 – 89
3 Ulje e moderuar e GFR 30 – 59
4 Ulje e rende e GFR 15 – 29
5 Insuficience renale < 15 ose dialize
Konkluzione
•Dozimi i glukozes esell ne gjak eshte testi me i mire
fillestar per diagnozen e diabetit
• Testi i tolerances se glukozes perdoret vetem ne
subjekte qe kane vlera ekuivoke te glicemise esell
• Pacientet e diagnostikuar me tolerance te thyer te
glukozes perfitojne nga nderhyrja ne stiline jetes dhe
kontrolli vjetor i glicemise
•HbA1C eshte testi me i mire per kontrollin dhe
monitorimin e nje pacienti diabetik
• Pacientet diabetike perfitojne nga monitorimi agresiv
dhe menazhimi i faktoreve te rriskut kardiovaskular
Prof. Asc. Etleva Refatllari 48
Ekuilibri I ujit dhe natriumit: HIPONATREMIA: HIPERNATREMIA:
(uji marrje humbje+ avp rreg osmolariteti+ natrium (zhvillimi+ mbajtja h20 +siad+ humbje na+ MEKANIZMI + SHENJA KLINIKE + TRAJTIMI +
marrje humbhe + aldosteroni+pan+rreg vellimit_ +pseudohipona) CRREGULLIME TE TJERA TE OSMOLARITETIT
per nje njeri 70 kg: Na+ <135-145
uje: 0,5 -5 l Haset me shpesh ne biokimine klinike MEKANIZMI: HUMBJE H20 + MBINGARKESE NE
rekomandohet: 2,7 per grate na+ rregullon levizje osmotike pasive te ujit NA+
3,7 per meshkujt ZHVILLIMI I HIPONA+: HUMBJE H20=MARRJE ULET OSE HUMBJE TEPERT
Plazme-nderqel-ecf humbje na / mbajtje h20 MARRJE ULET PLQETE OSE PT ME + diabti
7%-26%-67% humbje na+  humbje h20 insipid central ose nefrogjenik
HUMBJE RENALE: humbja ujit shenjat klinike diabeti melitus diureze osmotike humbje h20
0,5-15 ml/min mbajtja e ujit shfaqet me shpesh sesa humbje na >> humbje na+
0,5-4 l/dite mbingarkesa ne na+=helmim me kripe bikarbs
Humbje e padukshme: 500-850 ml mbajtja e h2o=rritj e marrjes se ujit + ulje e sekretimit per trajtim acidoze por duhet kujdes se cc na+ ne
Per na+: te ujit 8,4% bikarbonate shte 1000 mmol/L
marrim  100-300 edematoz+jo-edematoz sindromaconn hiperaldosteronizem
kaq largojme mbajtja h2o edematoz : cushing prodhim I tepert kortizoli
Ndahet ne te kembyeshem 75% kryesisht ne ECF kripa IV jo-e pershtatshme
te pakembyeshem 25% ne inde si kocka etj SINDROMI nefrotik ne rast se eshte ne faze te DIUREZE OSMOTIKE  diabet mellitus h20
na+ avancuar anuri dhe duke qene se shoqerohet me shume me e zvogeluar se na+
135-145meq/L ose mmol/L hipoalbuminemi dhe prezence te proteinave ne urine diabet insipidus humbje renale h2o (humbje
EDEMATOZ h20; na+ normal)
Hormonet ne rregullim : PAN; HAD; ALDOSTERONI sindroma conn (na+ rritur; h2o normale)
OSMORECEPTORET NE HIPOTALAMUS: Mbajtja e h2o joedematoz: sindroma cushing
 OVLT organum vasculosum of the lamina terminalis pirje mekanike e h20 dhe SIAD ose deshtim renal
 SFO subfornical organ hiperna+ e lehte +shenja dehidrimi ecf e
------------------------------------------------------------------------- Kripe iv papersh joedem mbajtje h20 + marrje > zvogeluar prej humbje se te dyve
K+ normal range 3,5-5,0 meq/l ose 3,5-5 mmol/L ccf--> edematoz mbajtje h20+sekrec< hiperna+ e rende + shenja dehidrimi te lehta
Cl- 96-106 sindromi nefrotik edematoz mbajtje + sekrecion I krahasuar me hiperna+  humbje h20 (diabet
osmola serumit: 275-295 ulet insipid)
osmolalitet urine 500-800 pirja e > mekanike e h2o  rritje e marrjes se ujit
hco3 22-28 joedematoz Crreg te tjera te osm: urea e rritur ne semundje te
urea 2,5-7,1 SIAD jo edematoz ulje e sekretimit veshkave + hiperglicemi + etanol/sub tjeter e
Kreatinina 53-106 mikromol/l meshkujt deshtimi renal ulje sekretimit t h20 jo edematoz marre nga goja
femrat 44-97 mikromol.L mungesa e na+ humbje te medha dhe marrje te uleta -------------------------------------------------------------------
marrej te uleta e rralle Efektet e ndryshimeve te k+ shihen tek indet e
kreatinina ne serum humbj GI; DJERSE; veshke (kur kemi sasi te ulet ngacmueshme nervat + muskujt
------------------------------------------------------------------------- aldosteroni ose baran antagoniste te alsoteronit si Shkaqet e hipokalemise jane: marrje e paket +
K+ marrjet: 30-100mmol/dite SPIRONOLAKTONI rishperndarje + humbje e shtuar
98% e k+ gjendet ne ICF SIAD (had deri 500 pmol/L) SHFAQET NE : infeksion;
malinjitet; trauma Ndryshimet ne ekg te pt me hipokalemi= t e
ne ekg: vale T me ngritje tipike me maje ose QRS e infeksioni nxit clirim HAD rrafshet dhe vale U
zgjeruar + dobesi muskulore + parestezite malinjitetetsekretojne HAD disa
hypoxia sekreton HAD si mekanizem kompensator Shkaqe te zakonshme te hipok= diarre+ te vjella +
HIPERK+ mund te jete: marrje e tepruar + per rritje te BP diuretiket
rishperndarje + largim I zvogeluar medikamente sekretim te HAD
 Analize e urinesl procedura te realizimit tesaj dhe interpretimi I te dhenave alb te saj
o Glukozuria: prgagu renal per glukozen mund te ulet te grate shtatezena; glukozurine reanle; mbas nje ngrenie
o Ph: acide kur kemi keqperdorim te barnave; acidoze pa shpjegueshme ose deshtim te rreg te perqendrimit te joneve H
 Proteinat plazmatike:
o 5000 proteina ne organizem
o Perqendrimi I proteinave plazmatike:
ritmi I sintezes—ritmi I katbolizmit—volumi I lengjeve ne te cilat proteinat gjenden
o Sinteze:
makrofaga proteinat e komplementit
qeliza plazmocitare ig
qeliza intestinale lipoproteina
hepari ALBUMINA; 80% E GLOBULINAVE DHE FIBRINOGJEN SINTETIZOHEN NE HEPAR
o PROTEINA HEPATIKE
 ALBUMIN
 ALFA1 Alfa1AT
 Alfa2 haptoglobina; alfa2 macroglobulina
 Beta1 dhe beta2 transferin;c3
o Proteina limfoide
 Gama proteina ig; crp; LDH
o PERQENDRIMI I PROTEIAVE PLAZMATIKE = 6,4-8,3 g/dl
o Shumica proteinave gjenden ne lengun intersticial ekstravasular dhe nje sasi me e vogel ne shtratin vazal
o Staze e gjate gjate venopuktures uji del ne intersticium rritje te proteinave totale plamatike
o Flebotomi te marre ne krahun ku eshte realizuar infuzioni hollim te gjakut ulet proteina totale plazmatike
o + ----------------------------------------------------- -
albumi; alfa globulina; betaglobulina; gamaglobulina
(alfa ; alfa 2)
o Alfa 1 globulina: a1 antitrypsina …
o Alfa 2 globulina: a2 makroglobulina + haptoglobina + ceruplazmina + alfa liporpteina
o B globulin: transferin + c3 + beta lipoproteina
o Gama globulina: imunoglobulina
o ALBUMINA= hipoalbumina + hiperalbumina +analbuminemi + bialbuminemi
o HIPOALBUMINEMI= humbje ekzogjene e albumines + katabolizem I shtuar + ulje sintezes + gjendje fiziologjike + shkaqe preanlitike
humbje ekzogjene= humbje urinare (sindromi nefrotik) + humbje kutane (djegje) + humbje digjestive (gastroenteropati eksudative)
katabolizem I shtuar= neoplazi + hipertiroidizem + temp e zgjatur + traum + diabet I pakomp
 o Gravidance + laktacion gjendje fiziologjike e hipoalbuminemis
o Analbuminemia=kongenitale + mungese e plote e pikut te albuminave +rritje te ndjeshme te kater fraksioneve
o Bialbuminemi= dublikim I pikut te albumines
o Def I lindur I a-1 antitripsines= cirroze + emfizeme pulmonare ne moshe te re
o Ulje e kombinuare e a1 glbulines +a2 globulines + albumines= semundje hepatiek/malnutricion/humbje te proteinave
o Rritje e a1-globulina:
 Gjendje inflamatore/malinjitet/nekroze
o A-2 globulina
rritet= gjendje inflamatore; kombinohet me a1-globulinat te rritura
sindrom nefrotik= shoqerohet me ulje te albumines por a2 rritet
ulet= insuf hepatocelulare/denutricion/humbje proteinike/hemolize intravaskulare
o SINDROMI NEFROTIK= ulet albumina;  a2 globulina;  beta globulina
o Inflamacioni akut=  a1 glob;  a2 glob
o Beta-globulina:
 Rritje= anemi ferrodef + gravidance+ trajtim me estrogjen + dislipidemi + obstruksion biliar
 Ulet- insuf hepatike + denutricion + humbje proteinike

TEZA 1:

 Interpretimi I testeve lab;

o Teste: sasiore; cilesore; ½ sasiore (prania e glukozes ne urine
 Intervale te vlerave referuese
o Variacioni analitik << variacioni biologjik
o Negativ I rreme
o Pozitiv I rreme
o Sensitiviteti analitik tregon se sa e vogel eshte sasi e analitit qe mund te hetohet me ate lloj testi
o Specifiteti analitik tregon sa I suksesshem eshte testi ne dallim te analitit te kerkuar prej sub te tjera me pot nderhyres ne test
o Specf I testit mat sa shpesh shfaq rezultate negative tek pt e shendoshe (nuk e kane semundjen)
o Sensitiv testi mat incidence te rezultateve pozitive te pt e semure e kane ne semundje
o 100% sensitiv= tregon rezultatet pozitive tek te gjithe te semuret
o 100% specifik= tregon rezultatet negative per te gjithe te shendoshet

MONITORIMI I FETUSIT DHE DIAGNOZA PRENATALE: Montiroimin e fetusit dhe dg prenatale:

Hcg  HUMAN CHORIONIC GONADOTROFIN  HCG (HUMAN ECHORONIC GONADOTROPIN) LAKTOGJENI PLACENTAR HUMAN HPL
ESHTE? Glikoprotein qe prodhohet nga qelizat
korionike te embrionit ne zhvillim dhe zbulohet
permes testeve sensitive brenda pak ditesh pas
koncepcionit, prandaj perdoret per konfirmim te
shtatezanise dhe eshte baza e testeve te shtatezanis,
me funksion ruajtjen e aktivitetit te corpus lutem ne
sintezen e PROGESTERONIT.
Ritmet e sintezes evidence per implantim te
blastocitit 24 h pas; sekretohet ne serum nga placenta
ne zhvillim dhe perqendrimet ne serum + urine rriten
gjate 9 javeve te para te shtatezanis dhe pastaj ulen
gradualisht deri ne fund te tresemestrit te trete.
Vlera e matjes se HCG si diagnostifikuese?
 zbulim te shtatezanive ektopike, ku HCG nuk rritet
me shpejtesine e pritur
 aborti kercenues
zbulim te mola hydatidosa dhe choriocarcinoma, si
markues tumoral
MONITORIMI BIOKIMIK I FUNKSIONIT
FETOPLACENTAL
hpc human placental lactogen sintetizohet nga
placenta, eshte hormon
ritmi perqendrimi I HPL rritet ne shtatezani deri ne
kohen e lindjes
estrioli steroid; sintetizohet nen veprimin e
enzimave ne fetus dhe ne placente
hpc dhe estrioli jane zv nga unltratingulli dhe
karditokografia
Diagnoza prenatale:
invasive ose jo-invasive
kerkohet: ne rastet me rist te rritur per semundje te
trasheguara
invasive: aminocenteza + mostra e vilit korionik +
kordiocenteza + fetoskopia + biopsia e lekures fetale +
biopsia e melcise fetale
jo-invasive= ultratingulli + radiografia
ESTRIOLIN
 DG prenatale: invazive; joinvazive
alfafetoproteinen; birubinen; gazet e gjakut fetal
 HCG: glikoprotein + krijohet nga trophoblasti (qelize e korionit te embrionit ne zhvillim)
matja e vlerave te hcg can be useful identifikim te nje htatezanie normale; shtatezani
patologjike; malignancite extra-uterine + choriocarcinomat + ndjekje te nje shtatezani te
abortuar
HCG stands for human chorionic gonadotropin. It is a hormone produced during pregnancy by the
placenta. HCG is commonly used as a marker for pregnancy testing, but it also has other important
functions and clinical applications.
 Structure and Composition:
HCG is a glycoprotein hormone composed of two subunits: alpha (α) and beta (β).
 The α-subunit is similar to the α-subunits of other glycoprotein hormones like FSH;LH
 The β-subunit is unique to HCG and confers its biological specificity.
 Production and Secretion:
HCG is primarily produced by elizat e korionit te embrionit
The production of HCG begins around 8-9 days after fertilization and increases rapidly during early
pregnancy; HCG secretion peaks around the 8th-10th week of pregnancy and then gradually
declines.
 Functions and Actions:
 Pregnancy detection: HCG is commonly used in pregnancy tests to detect the presence of
the hormone in urine or blood, indicating pregnancy.
 Maintaining the corpus luteum: During early pregnancy, HCG stimulates the corpus luteum
in the ovary to continue producing progesterone.
 Fetal development: HCG has been shown to have some influence on fetal development,
particularly in the early stages of pregnancy.
 Clinical Applications:
 Pregnancy testing: HCG is commonly used in home pregnancy test kits as well as laboratory-
based assays to confirm pregnancy.
 Monitoring pregnancy health: Serial measurements of HCG levels can provide valuable
information about the progress of a pregnancy. Abnormally low or high levels may indicate
potential issues.
 Trophoblastic disease diagnosis: Elevated HCG levels can indicate the presence of
trophoblastic diseases, such as molar pregnancies (growth of an abnormal mass of cells in
the uterus instead of a normal fetus) or choriocarcinomas.
 Infertility treatment: HCG injections can be used to trigger ovulation in women undergoing
assisted reproductive technologies, such as in vitro fertilization (IVF).
ALFAFETOPROTEINA AFP eshte glikoprotein e vogel
qe sintetizohet nga qeska vitelin dhe melcia fetale;
proteina kryesore e plazmes
ritmi sintezes rritet ne gjakun maternal deri javen
32-te
perqendrime me te larta sesa normalja? Defekte te
SNQ-se; anencefalia; spina bifita
nivele te larta sugjerojne per defekt te tubit neural
sese malformime te tubit shoqerohen me rrjedhje te
proteinave te plazmes ose CSF ne lengun aminotik
acetilkolinesteraza
biopsi e vilusit te korionit/ kultivim I qelizave te lengut
aminotik 3-4 jave
Biluribina test per inkompatibilitetin rhesus; matet
ne lengun aminotik
Raporti lektin/sfingomielin ne lengun aminotik <2 
imature
Human placental lactogen (HPL) is a hormone produced by the placenta during pregnancy. Also
known as human chorionic somatomammotropin (HCS), it plays a vital role in supporting and
regulating maternal and fetal metabolism.
Structure and Composition:
 HPL is a protein hormone that belongs to the somatotropin/prolactin family.
 It is structurally similar to human growth hormone (hGH) and prolactin.
 HPL consists of a single polypeptide chain and has a molecular weight of approximately
22,000 Daltons.
Production and Secretion:
 HPL is primarily produced by the syncytiotrophoblast cells of the placenta.
 Its secretion starts around the 5th week of pregnancy and continues to rise until term.
 The levels of HPL increase in proportion to placental mass.
Functions and Actions:
1. Metabolic regulation: HPL acts as a metabolic hormone during pregnancy, helping to
regulate glucose and lipid metabolism.
2. Insulin antagonism: HPL has insulin-like effects, inhibiting maternal insulin action to ensure
adequate glucose supply to the fetus.
3. Promoting mammary gland development:
4. Fetal growth regulation: HPL has growth-promoting effects on the fetus by enhancing
protein synthesis and stimulating lipolysis in the mother to provide energy substrates for
fetal growth.
5. Immunomodulation: HPL may play a role in modulating the maternal immune system to
prevent the rejection of the fetus.
Clinical Significance:
1. Pregnancy monitoring: HPL levels can be measured to assess placental function and monitor
the progression of a healthy pregnancy.
2. Gestational diabetes: Elevated levels of HPL can contribute to insulin resistance and the
development of gestational diabetes mellitus (GDM).
3. Fetal growth abnormalities:
Diagnostic marker: HPL is sometimes used as a marker in diagnostic tests for trophoblastic
diseases, such as molar pregnancies or choriocarcinomas.
Estriol is a hormone that belongs to the group of estrogens. It is primarily produced during
pregnancy and serves as an important marker for fetal well-being. Here are the details you need to
know about estriol for your biochemistry exam:
Structure and Synthesis:
 Estriol, also known as E3, is an estrogen hormone derived from cholesterol.
It is a metabolite of estradiol and estrone, which are the other two primary estrogens in the body.
Estriol is synthesized mainly in the placenta during pregnancy, with a small amount produced by
the fetal liver.
Functions and Actions:
 Pregnancy support:
 Maturation of the uterus:
 Breast development:
 Circulatory system: Estriol promotes changes in blood vessels, including increased blood flow
and vasodilation.
Clinical Significance:
 Fetal well-being: Estriol levels are used as a marker of fetal well-being and placental function
during pregnancy.
 Maternal serum screening: Estriol, along with other hormones and markers, is measured in
maternal blood as part of prenatal screening tests for detecting chromosomal abnormalities,
such as Down syndrome.
 Fetal adrenal function:
 Assessment of fetal distress:
Measurement and Interpretation:
 Estriol levels can be measured in maternal blood or urine samples.
 During a normal pregnancy, estriol levels increase steadily, peaking in the third trimester.
 Abnormally low estriol levels may indicate potential issues with fetal development, placental
function, or fetal adrenal gland function.

Prenatal diagnosis refers to the medical procedures and tests used to assess the health and
development of a fetus before birth.
It helps identify genetic, chromosomal, and other developmental abnormalities

Types of Prenatal Diagnosis:

 Non-Invasive Prenatal Testing (NIPT): NIPT is a blood test performed on the mother's blood
sample to screen for common chromosomal abnormalities, such as Down syndrome (trisomy
21), trisomy 18, and trisomy 13. It analyzes cell-free fetal DNA fragments circulating in the
maternal bloodstream.
 Ultrasonography: This imaging technique uses sound waves to create visual images of the fetus.
It is used to assess fetal growth, anatomy, and detect structural abnormalities.
 Amniocentesis: Amniocentesis involves extracting a small amount of amniotic fluid, which
surrounds the fetus in the uterus. This fluid contains fetal cells and biochemical markers that can
be analyzed for genetic and chromosomal abnormalities.
 Mostra e vilit koronik: CVS involves sampling cells from the chorionic villi, small finger-like
projections on the placenta. It can be performed earlier in pregnancy than amniocentesis and
provides similar genetic and chromosomal information.
 Cordocentesis: Also known as percutaneous umbilical blood sampling (PUBS), cordocentesis
 involves taking a sample of fetal blood from the umbilical cord. It is typically performed in cases
where other tests have been inconclusive or when more specific information is needed.
 Maternal Serum Screening: This blood test measures various markers in the mother's blood to
assess the risk of certain chromosomal abnormalities, such as Down syndrome, neural tube
defects, and certain genetic disorders.
Indications for Prenatal Diagnosis:

 Advanced maternal age: Women aged 35 or older are at an increased risk of having a baby with
chromosomal abnormalities.
 Family history: A family history of genetic disorders or previous child with birth defects may
warrant prenatal diagnosis.
 Abnormal ultrasound findings: Structural abnormalities detected during routine ultrasound
examinations may necessitate further diagnostic testing.
 Positive screening results: Elevated risk identified through non-invasive screening tests may
warrant confirmatory invasive diagnostic testing.
 Parental carrier status: If one or both parents are carriers of certain genetic disorders, prenatal
diagnosis can help determine the risk of the fetus inheriting the condition.

Alpha-fetoprotein (AFP) is a protein that is produced during fetal development. It serves as an

important biomarker for various conditions, including pregnancy, certain cancers, and certain birth
defects.

Structure and Synthesis:

 AFP is a glycoprotein, meaning it is a protein molecule with attached carbohydrate chains.

It is primarily synthesized by the fetal liver, yolk sac, and gastrointestinal tract during early
embryonic development.
 In adults, AFP production is minimal, but trace amounts can still be detected in the liver.

Functions and Actions:

 Fetal development: AFP is involved in the transport and regulation of various molecules
essential for fetal development, such as fatty acids, steroids, and growth factors.
 Maternal-fetal interface: AFP plays a role in the exchange of nutrients and waste products
between the mother and the developing fetus.
 Liver development: AFP contributes to the maturation and development of the fetal liver.
 Immunomodulation: AFP has immunomodulatory properties, potentially playing a role in
preventing the maternal immune system from attacking the developing fetus.
Clinical Significance:
 Prenatal screening: AFP is used as a marker in prenatal screening tests to assess the risk of
 certain fetal abnormalities, particularly neural tube defects (NTDs) like spina bifida and
anencephaly. Abnormal AFP levels may indicate an increased risk of these conditions.
 Monitoring fetal well-being: AFP levels can be monitored throughout pregnancy to assess
fetal health and development, particularly in cases of high-risk pregnancies or suspected
fetal abnormalities.
 Liver diseases: Elevated AFP levels in adults can be indicative of liver diseases, such as
hepatocellular carcinoma (HCC) or liver cirrhosis. It can serve as a tumor marker for HCC.
 Germ cell tumors: AFP is also used as a tumor marker for certain germ cell tumors, including
testicular cancer and ovarian cancer. Elevated levels of AFP in these cases can indicate tumor
activity or recurrence.
Measurement and Interpretation:

 AFP levels can be measured in maternal serum during pregnancy or in blood samples from
adults suspected of having liver diseases or germ cell tumors.
 Elevated AFP levels may indicate an increased risk of NTDs (neural tubes deffect) during
pregnancy or the presence of liver diseases or germ cell tumors in adults.

Bilirubin levels in amniotic fluid are measured as part of prenatal testing to assess the risk of
certain conditions, particularly fetal hemolytic disease.

Background on Bilirubin:
 Bilirubin is a yellow pigment produced during the breakdown of hemoglobin, the protein in
red blood cells that carries oxygen.
 It is primarily processed and excreted by the liver.
 Elevated levels of bilirubin can indicate underlying conditions such as liver disease or
increased red blood cell breakdown.
Amniotic Fluid Bilirubin Testing:
 Indication: Bilirubin levels in amniotic fluid are typically measured when there is a concern
for fetal hemolytic disease, which occurs when there is an incompatibility between the
mother's and fetus's blood types.
 Hemolytic disease: Hemolytic disease of the fetus and newborn (HDFN) can occur if the
mother has Rh (Rhesus) factor incompatibility or other blood group incompatibilities with
the fetus.
 Rh incompatibility: The most common cause of HDFN is Rh incompatibility, which occurs
when the mother is Rh-negative and the fetus is Rh-positive.

 Procedure: Amniotic fluid is obtained through amniocentesis, a procedure in which a small

sample of amniotic fluid is withdrawn from the amniotic sac surrounding the fetus. The fluid is then
analyzed for various parameters, including bilirubin levels.
Interpretation and Clinical Significance:
 Prediction of HDFN severity: Bilirubin levels in amniotic fluid can help predict the severity of
HDFN. Elevated levels indicate an increased risk of fetal anemia, which can have serious
consequences if left untreated.
 Decision-making and management: The results of amniotic fluid bilirubin testing help guide
the management of HDFN. Based on the bilirubin levels, interventions such as intrauterine
transfusions or early delivery may be considered.
 Monitoring fetal well-being: Serial amniotic fluid bilirubin measurements may be performed
to monitor the progression of HDFN and guide treatment decisions.

Fetal blood gas analysis is a prenatal testing method used to assess the oxygenation and acid-base
balance in the blood of the fetus. It provides valuable information about the fetus's respiratory
and metabolic status.

Significance of Fetal Blood Gas Analysis:

 Oxygenation assessment: Fetal blood gas analysis helps determine the oxygen levels in the
fetal bloodstream, reflecting the adequacy of placental oxygen transfer.
 Acid-base balance evaluation: It provides information about the fetus's acid-base status,
indicating whether there is an imbalance in the pH of the blood and if the fetus is
experiencing acidosis or alkalosis.
 Assessment of respiratory function: Fetal blood gas analysis aids in evaluating the fetus's
respiratory function by measuring parameters such as partial pressure of oxygen (pO2) and
partial pressure of carbon dioxide (pCO2).

Procedure and Sample Collection:

Fetal blood gas analysis is typically performed during labor and delivery when there are concerns
about fetal distress or other complications.
Blood sample collection: The procedure involves collecting a small sample of fetal blood directly
from the umbilical cord or scalp blood vessels using a needle and syringe.
Cordocentesis or scalp sampling: Cordocentesis involves puncturing the umbilical cord, while scalp
sampling involves obtaining blood from the fetal scalp.
The collected blood sample is then sent to the laboratory for analysis.

Parameters Measured in Fetal Blood Gas Analysis:

 pH: The pH value reflects the acidity or alkalinity of the blood and indicates the overall acid-
base balance.
 pO2: The partial pressure of oxygen represents the concentration of oxygen dissolved in the
blood. It reflects the oxygenation status of the fetus.
  pCO2: The partial pressure of carbon dioxide indicates the concentration of carbon dioxide
dissolved in the blood. It provides information about the fetal respiratory function and
carbon dioxide elimination.
 Base excess: Base excess measures the amount of excess or deficit of acid or base in the
blood, providing further information about the acid-base balance.

Interpretation and Clinical Significance:

 Assessment of fetal distress: Abnormal values in fetal blood gas analysis, such as low oxygen
levels or abnormal pH, may indicate fetal distress and the need for intervention or delivery.
 Evaluation of fetal well-being: Fetal blood gas analysis helps assess the overall health and
oxygenation status of the fetus, particularly in high-risk pregnancies or situations where
there are concerns about fetal compromise.

Shtatzania – monitorimi i fetusit dhe diagnoza prenatale

• HCG
• hLP – laktogjeni placentar (funksioni fetoplacentar)
• Progesteron
• Estrogjen (estriol)
• AFP
Shtatzania – monitorimi i fetusit dhe diagnoza prenatale
Detektimi i anomalive fetale
• Triple screening (AFP-HCG-Estriol) – diagnoza e crregullimeve kromozomale (java 15 – 18)
• Studime gjenetike (ADN e ekstraktuar nga vilet koriale)
• Bilirubina ne likidin amniotik (rrisku fetal per papajtueshmerine rhezus) NIPT – test prenatal
joinvaziv
Skrinimi i te porsalindurit
• Hipotiroza kongenitale
• Fenilketonuria
• Fibroza kistike
• Teste te tjera: galaktozemia, hiperplazia adrenale kongenitale, tirozinemia, semundja e urines si
shurup panje, deficiti i biotinidazes (enzime qe riciklon biotinen) drepanocitoza etj

MARKUESIT TUMORALE: Tumor markers are substances produced by tumor cells or normal cells in response to tumor
 TUMOR MARKERS: growth. They can be measured in blood, urine, or tissue samples and are used in various clinical
hormones- human chorionic gonadotropin- scenarios. Here are the details you need to know about tumor markers for your biochemistry
choriocrcinoma exam:
enzima—prostatic acid phosphatase- carcinomen
e prostates Use of Tumor Markers:
 antigne tumoral—antigeni carcinoembryonic ne
carcinomen kolorektale  Monitoring treatment: Tumor markers are often used to monitor the response to cancer
 Vetem markerat shume rralle are used to establish treatment. Serial measurements of tumor marker levels can indicate the effectiveness of
a diagnosis POR markera + evidence klinike + therapy or the recurrence of tumor growth.
radiologjike + evidence biopsie konfirmim te (HCG;AFP;CA125;ACID-PHOSPHATASE; PSA; CEA; CALCITONIN; HORMONE; PARAPROTEIN)
diagnozes  Assessing follow-up: After cancer treatment, tumor markers can be used to monitor for
 Teratome testikulare—HCG dhe AFP korrekoljne disease recurrence or progression during follow-up visits.
mire per percaktim prognoze (hcg; afp; paraprotein; hormone; CEA per ca kolrektal; PSA;calcitonin; acid phosphatase;
 Paraproteina korrelon ne mielomen multiple ca125)
 Diagnosis: Tumor markers can assist in the diagnosis of certain types of cancer. Elevated
Markuesi—tumori levels of specific tumor markers, when correlated with clinical findings and imaging studies,
AFP GERM CELL can support a cancer diagnosis. (te gjithe marker me siper vec CEA)
AFP HEPATOMA  Prognosis: Tumor marker levels can provide prognostic information regarding the likely
HCK GERM CELL course of the disease, treatment response, and overall survival. Higher levels of certain
HCG CHORIOCARCINOMA tumor markers may indicate a poorer prognosis. (AFP dhe HCG)
CA 125 OVARIAN  Screening for the presence of disease: In some cases, tumor markers are used for
ACID PHOPHATASE PROSTATE population-based screening programs to detect the early presence of certain cancers,
ANTIGEN SPECIFIC PROSTATES PROSTAT although their use as primary screening tools is often limited. (afp; hcg; calcitonin)
CEA KOLORECTAL Practical Applications of Tumor Markers:
CALCITONIN MEDULLARY CARCINOMA OF THYROID
HORMONES ENDOCRINE  Breast cancer: Tumor markers such as CA 15-3 and CA 27.29 are used in the management of
PARAPROTEIN MYELOMA breast cancer, including monitoring treatment response and detecting recurrence.
 Prostate cancer: Prostate-specific antigen (PSA) is widely used for prostate cancer screening,
Te gjithe perdoren per dg vec CEA; dhe monitorim dhe monitoring treatment response, and follow-up after therapy + ACID PHOSPHATASE
ndjekje te trajtimit  Colorectal cancer: Carcinoembryonic antigen (CEA) is a tumor marker used in the management
prognoze HCG dhe AFP of colorectal cancer, including monitoring treatment and detecting recurrence.
 Ovarian cancer: CA 125 is a commonly used tumor marker for ovarian cancer, assisting in
diagnosis, monitoring treatment response, and detecting recurrence.
 Lung cancer: Tumor markers such as carcinoembryonic antigen (CEA) and cytokeratin fragment
21-1 (CYFRA 21-1) are used in the management of lung cancer.
Tumor Markers with Established Clinical Value:
 Alpha-fetoprotein (AFP): AFP is used in the diagnosis and monitoring of hepatocellular
carcinoma and certain germ cell tumors.
 CA 19-9: CA 19-9 is a tumor marker primarily associated with pancreatic cancer and is used
for monitoring treatment response and detecting recurrence.
 CA 125: CA 125 is used in the management of ovarian cancer, including diagnosis, treatment
monitoring, and follow-up.
 PSA: PSA is a widely used tumor marker for prostate cancer, aiding in screening, diagnosis,
treatment monitoring, and post-treatment surveillance.
METABOLIZMI I LIPOPROTEINAVE: Lipoproteina eshte nje strukture komplekse sferike e perbere nga nje berthame (TG dhe estere
 kolesteroli) hidrofobe te mbeshtjelle nga nje mbulese (fosfolipide, kolesterol, proteina) hidrofile.
CORE HYDROPHOBIC + COATING HYDROPHILIC Klasifikimi, karakteristikat, vendi i sintezes dhe funksionet e lipoproteinave.
tg+chol – FOSFOLIPIDE + CHL LIRE + APO- Lipoproteinat klasifikohen ne 5 grupe, perkatesisht:
LIPOPROTEINA 1. Kilomikrome—b48; A-I; C-II; E—densitet te ulet—nuk migrojne ne elektroforeze; formohen
ne zorre; transport te TG egzogjene; nuk gjendet ne plazmen normale esell; diametrin me te
Kilomikrone madh
VLDL 2. VLDL—hepar—transport TG endogjene –b100;cii;E—
LDL 3. IDL – b100; C-II;E-- gjenerohet prejt VLDL ne qarkullim; bartes kryesor I kolesterolit
HDL 4. LDL—B100; gjenerohet prej VLDL ne qarkullim +bartes kryesor I kolesterolit
5. HDL—densitet te larte—hepar; zorre; nga kilomikronet ben transport kundert te kolesterolit
LPL LIPOPROTEINLIPAZA ne kalpilaret e indeve; nga indet periferike drejt melcise
kryesisht muskulor dhe adipoz releases free fatty
acids and glycerol from chylomicrons and VLDL into Cikli endogjen dhe ekzogjen i lipoproteinave.
the tissues Metabolizmi I lipoproteinave perbehet nga 2 cikle, te dy ne hepar.
 Ne cikel perfshihen 2 sisteme enzimatike: LPL dhe LCAT.
Apoproteins funcion: Cikli ekzogjen I lipideve:
mirembajtjen e integritetit strukturor te  Yndyra ushqimore perthithet ne zorret e holla nga kilomikronetsekretohen ne enet
lipoproteinave limfatike Permes duktusit torakal arrijn ne qarkullimin e gjakut, ku lipaza lipoproteinike
rregullimin e aktivitetit te enzimave qe veprojne ne ben largimin e TG nga kilomikronet, duke bere qe ky I fundit te shfryhet dhe te zvogelohet
lipoproteina dhe membrana te rrudhoset nga tepria materialit te saj. Me pas hepari zberthen mbetjet e
njohje te receptorit kilomikroneve.
Cikli endogjen I lipideve:
receptoret e LDL lidhen me apoproteinat B dhe E Hepari sintetizon VLDL ,te cilat kalojne ne te njejten forme si kilomikronet. VLDL rezulton ne IDL , dhe
me tej ne LDL.
LDL largohet permes 2 rrugeve: ose prej receptorit me afinitet te larte per LDL ,ose me ane te
rrugeve te tjera pastruese (rruget permes se ciles kolesteroli inkorporohet ne pllaken ateromatoze).
Ndersa HDL perftohen si nga hepari edhe nga zorret dhe largohet nga qarkullimi drejtperdrejt nga
hepari ose terthorazi duke kaluar tek lipoproteinat e tjera. (efekt anti-aterogjenik).

Receptori per LDL.

Eshte nje glikoproteine ne siperfaqen e te gjitha qelizave, e perqendruar ne coated pits. Ai lidhet me
lipoproteinat qe permbajne apolipoproteina B dhe E, i fut brenda per zberthim qelizor. Me pas keto
receptore riciklohen ne siperfaqe per riperdorim. Numri I tyre ne Siperfaqe tregon per nivelin e LDL
ne qarkullim, kur kolesteroli eshte ne nivel te mjaftueshem sinteza receptoreve frenohet dhe e
kunderta. Keqfunksioni I trasheguar ose mungesa e tyre con ne hiperkolesterolemine familjare.

Lipoprotein Metabolism:

Lipoproteins are complex particles composed of lipids (such as triglycerides and cholesterol) and
proteins. They are responsible for transporting lipids in the bloodstream.
Nomenclature of Lipoproteins:
There are several classes of lipoproteins, classified based on their density.
The major lipoproteins are:
 Chylomicrons: The largest and least dense lipoproteins, primarily composed of dietary
triglycerides.
 Very-low-density lipoproteins (VLDL): Formed in the liver, they transport endogenously
synthesized triglycerides.
 Intermediate-density lipoproteins (IDL): Intermediate in density between VLDL and low-
density lipoproteins (LDL).
 Low-density lipoproteins (LDL): Also known as "bad cholesterol," LDL delivers cholesterol to
tissues.
 High-density lipoproteins (HDL): Also known as "good cholesterol," HDL removes excess
cholesterol from tissues and transports it to the liver for elimination.

Exogenous Lipid Cycle:

The exogenous lipid cycle refers to the transport of dietary lipids (triglycerides) after a meal. The
process involves:
 Intestinal absorption: Dietary triglycerides are broken down into free fatty acids and
monoglycerides by pancreatic lipases. They are then absorbed by enterocytes in the small
intestine and reassembled into triglycerides.
 Formation of chylomicrons: Triglycerides combine with cholesterol, phospholipids, and
apolipoproteins in the enterocytes to form chylomicrons.
 Chylomicron transport: Chylomicrons are released into the lymphatic system and then enter the
bloodstream via the thoracic duct.

 Lipoprotein lipase (LPL) action: In peripheral tissues, LPL breaks down triglycerides within
chylomicrons into free fatty acids and glycerol, which can be taken up by the tissues for
energy or storage.
 Chylomicron remnants: After losing triglycerides, chylomicrons become chylomicron
remnants, which are taken up by the liver through receptor-mediated endocytosis.

Endogenous Lipid Cycle:

The endogenous lipid cycle involves the production and metabolism of lipoproteins in the liver. The
process includes:

1. Hepatic VLDL synthesis: The liver synthesizes VLDL by incorporating newly synthesized
triglycerides, cholesterol, phospholipids, and apolipoproteins.
 2. VLDL secretion: VLDL particles are released into the bloodstream and undergo maturation.
3. Lipolysis: LPL breaks down VLDL triglycerides, similar to chylomicrons, releasing free fatty
acids and glycerol.
4. VLDL remnants: After triglyceride removal, VLDL particles become IDL. IDL can either be
taken up by the liver or further metabolized to form LDL.
5. LDL formation: IDL particles can undergo further lipolysis to form LDL, which mainly contains
cholesterol esters.
6. LDL receptors: LDL particles bind to LDL receptors on various cells throughout the body,
allowing cholesterol uptake for cellular functions.
7. HDL synthesis: HDL particles are synthesized in the liver and intestine, and they acquire
cholesterol from peripheral tissues.

Reverse cholesterol transport: HDL removes excess cholesterol from tissues and transports it back
to the liver for elimination.

Main Enzymes Involved:

Several enzymes play crucial roles in lipoprotein metabolism. Here are the main enzymes involved:

 Lipoprotein lipase (LPL): Found on the surface of endothelial cells in capillaries, LPL
hydrolyzes triglycerides in chylomicrons and VLDL, releasing free fatty acids for uptake by
tissues.

 Hepatic lipase: Found primarily in the liver, hepatic lipase acts on triglycerides and
phospholipids of IDL and HDL, facilitating their remodeling and metabolism.

 Lecithin-cholesterol acyltransferase (LCAT): Present in plasma, LCAT esterifies free

cholesterol, converting it into cholesterol esters. LCAT is primarily associated with HDL
metabolism.

 Acyl-CoA:cholesterol acyltransferase (ACAT): Found in various tissues, ACAT catalyzes the

esterification of cholesterol, forming cholesterol esters that are stored within cells or
incorporated into lipoproteins.

 Microsomal triglyceride transfer protein (MTTP): Located in the endoplasmic reticulum of

enterocytes and hepatocytes, MTTP plays a crucial role in the assembly and secretion of
chylomicrons and VLDL by facilitating the transfer of triglycerides and other lipids onto the
growing lipoprotein particle.

Apolipoproteins:
Apolipoproteins are proteins that associate with lipoproteins, providing structural stability and

Crregullime klinike te metabolizmit te yndyrnave:
Crregullime te lipoproteinave:
 Semundje koronare e zemres
 Pankreatiti akut
 Frenim I zhvillimit dhe dobesi trupore
 Katarakt
 HIPERKOLESTEROLEMIA familjare:
xanthelasma; xanthoma te tendinave;
hyperkolesterolemi severe; semundje premature
koronare te zemres; shkaktuar nga 500 mutacione
te ndryshme te gjenit per LDL
 Hyperkilomikronemia familjare:
dhimbje abdominale rekurrente; pankreatit;
mutacion te lipoprotein lipazes; gjeneve C-II
 Hipertrigliceridemia
 Fredrickson ose world Health Organization
classification
facilitating their metabolism and function. Some important apolipoproteins include:
 Apolipoprotein B-48 (ApoB-48): Present in chylomicrons, ApoB-48 is synthesized in the
intestine during the postprandial state (after a meal).
 Apolipoprotein B-100 (ApoB-100): Found in VLDL, IDL, and LDL, ApoB-100 is synthesized in
the liver and is essential for the recognition and binding of these lipoproteins to specific
receptors.
 Apolipoprotein A-I (ApoA-I): The major apolipoprotein of HDL, ApoA-I plays a crucial role in
reverse cholesterol transport by promoting the efflux of cholesterol from peripheral tissues
to HDL.
 Apolipoprotein E (ApoE): Present in chylomicron remnants, IDL, and some subclasses of HDL,
ApoE plays a key role in the recognition and clearance of these lipoproteins by interacting
with specific receptors.
LDL Receptors:
LDL receptors are cell surface proteins expressed in various tissues, especially liver cells. They
mediate the uptake of LDL particles by binding to ApoB-100, facilitating the cellular internalization of
cholesterol-rich LDL. The LDL receptor pathway helps regulate cellular cholesterol levels and
prevents the accumulation of excess LDL in the bloodstream.
Nje nga crregullimet me te perhapura metabolike ne praktiken klinike.
Pasojat:
- Semundja koronare e zemres
- Pankreatiti akut
- Katarakti
- Frenimi i zhvillimit dhe dobesia
Crregullimet e lipoproteinave klasifikohen ne:
- Paresore – nuk jane pasoje e ndonje semundjeje paraprake
- Dytesore – manifestime te semundjeve te tjera
Klasifikimi I Fredrickson (OBSH) I hiperlipidemive primare mbeshtetet ne
rezultatet e dala prej analizes se plazmes, jot e gjeneve.
Pacientet me defektin e njejte gjenetik mund t’u perkasin grupeve te ndryshme ose mund te
ndryshojne grupin me progresionin e semundjes ose mjekimin e saj.
6 tipet e hiperlipoproteinemive nuk jane te perhapura njelloj.
Tipi 1 dhe V te rralle, tipat IIa, IIb dhe IV shume te shpeshte.
 Common causes of secondary hyperlipidemia Tipi III – disbetalipoproteinemia familjare – frekuence mesatare 1/5000 raste.
semundje te dukshme klinike
semundje pa shenja klinike Hiperlipidemite dytesore, shkaktaret e zakonshem te tyre
 Profilet aterogjenike Pasoja te nje numri semundjesh, qe ndahen ne dy kategori:
 - Semundje te dukshme klinike – insuf renale, sindromi nefrotik, cirroza e
LIPOPROTEINA: TE RRITURA melcise.
- Semundje pa shenja klinike qe mund te manifestohen si hiperlipidemi –
TIPI I IIA IIB III IV V hipotiroidizmi, diabeti mellitus dhe abuzimi me alkoolin.
LP KILO ldl/ ldl idlvldl vldl
vldl kil Profilet laboratorike aterogjenike
CHL n/    n/ n/ Arsyeja me e madhe per matjen e yndyrave dhe lipoproteinave eshte lidhja e ngushte
TG  N     mes formave te caktuara te hiperlipidemive dhe semundjeve koronare te zemres CHD
LDL- N/   N/ N N ne praktiken klinike.
CHOL
HDL- N/ N/ N/ N/ N/ N/ Crregullimi me i shpeshte i yndyrave qe lidhet me aterogjenezen dhe rrezikun per CHD
CHOL eshte niveli i larte i LDL kolesterolit ne plazme. Te rrezikuar jane edhe individet me
HDL kolesterol te ulet dhe trigliceridemi te larte.

Crregullimet e lipoproteinave jane shume te shpeshta, ato cojne ne pasoja te ndryshme psh:
semundje koronare te zemres, pankreatit akut, frenim zhvillimi dhe dobesi, katarakt

Crregullimet e lipoproteinave klasifikohen ne: Hiperlipidemi paresore dhe dytesore.

Klasifikimi i Fredrickson (OBSH) i hiperlipidemive primare.
Hiperlipidemi primare jane ato crregullime qe nuk jane pasoje e ndonje semundje tjeter paraprake.
Klasifikimi fredrickson bazohet ne rezultatet e dala prej analizes se plazmes, jo te gjeneve. Keshtu
pacientet me defect te njejte gjenetik mund t’ju perkasin grupeve te ndryshme ose mund te
ndryshojne grup ne baze te progresit apo mjekimit te semundjes. Ai I ndan hiperlipoproteinemite ne
6 tipe, te cilat nuk jane te perhapura njelloj.

Lipid metabolism disorders, also known as dyslipidemias, are a group of conditions characterized by
abnormalities in the synthesis, transport, and breakdown of lipids in the body. These disorders can
result in imbalances in cholesterol, triglycerides, and other lipids, leading to various health
complications.

 Hypercholesterolemia:
Hypercholesterolemia refers to high levels of cholesterol in the bloodstream, specifically elevated
levels of low-density lipoprotein cholesterol (LDL-C). It can be classified as either primary (familial) or
secondary.
 Primary hypercholesterolemia is often caused by genetic mutations affecting LDL receptors
 or apolipoprotein B, leading to impaired clearance of LDL-C from the bloodstream.
 Secondary hypercholesterolemia can be caused by factors such as diet, obesity, diabetes,
or certain medications.

 Hypertriglyceridemia:
Hypertriglyceridemia refers to elevated levels of triglycerides in the bloodstream. It can also be
classified as primary or secondary.
 Primary hypertriglyceridemia is often caused by genetic mutations affecting enzymes
involved in triglyceride metabolism, such as lipoprotein lipase (LPL) or apolipoprotein C-II.
 Secondary hypertriglyceridemia can result from obesity, uncontrolled diabetes, excessive
alcohol consumption, or certain medications. High triglyceride levels are associated with an
increased risk of pancreatitis and cardiovascular diseases.

 Familial Hypercholesterolemia (FH):

Familial hypercholesterolemia is a genetic disorder characterized by a defective or absent LDL
receptor. It impairs the ability of cells to take up LDL particles, leading to severely elevated LDL-C
levels. FH is inherited in an autosomal dominant pattern, and affected individuals have a significantly
increased risk of premature cardiovascular disease. Clinical manifestations include tendon
xanthomas (deposits of cholesterol in tendons) and xanthelasmas (cholesterol deposits around the
eyes).

 Lipoprotein Lipase Deficiency:

Lipoprotein lipase deficiency (also known as familial chylomicronemia syndrome) is a rare genetic
disorder that impairs the function of lipoprotein lipase, the enzyme responsible for hydrolyzing
triglycerides in chylomicrons and VLDL particles. This leads to severe hypertriglyceridemia and the
accumulation of chylomicrons in the bloodstream. Symptoms include recurrent episodes of
abdominal pain, pancreatitis, and eruptive xanthomas (small yellowish papules on the skin).

 Tangier Disease:
Tangier disease is a rare autosomal recessive disorder characterized by very low levels of high-
density lipoprotein cholesterol (HDL-C) in the bloodstream. It results from mutations in the ATP-
binding cassette transporter A1 (ABCA1) gene, which impairs the efflux of cholesterol from cells to
form HDL particles. Tangier disease is associated with an increased risk of atherosclerosis and may
present with hepatosplenomegaly, peripheral neuropathy, and orange tonsils.

 Abetalipoproteinemia:
Abetalipoproteinemia is a rare autosomal recessive disorder characterized by the absence or severe
deficiency of apolipoprotein B (both ApoB-48 and ApoB-100), resulting in the inability to form
chylomicrons and very low-density lipoproteins (VLDL). This leads to the impaired absorption and
transport of dietary fats and fat-soluble vitamins. Clinical features include fat malabsorption, failure
to thrive in infants, steatorrhea (fatty stools), neurologic abnormalities, and retinal degeneration.

 Hypoalphalipoproteinemia:
Hypoalphalipoproteinemia refers to low levels of high-density lipoprotein cholesterol (HDL-C) in the
bloodstream. It can be either primary (genetic) or secondary. Primary hypoalphalipoproteinemia is
often caused by genetic mutations affecting genes involved in HDL metabolism, such as ApoA-I or
lecithin-cholesterol acyltransferase (LCAT). Secondary hypoalphalipoproteinemia can result from
obesity, sedentary lifestyle, smoking, and certain medications. Low levels of HDL-C are associated
with an increased risk of cardiovascular disease.

 Niemann-Pick Disease:
Niemann-Pick disease is a group of rare genetic disorders characterized by the abnormal
accumulation of lipids, particularly sphingomyelin, within cells. There are several subtypes of
Niemann-Pick disease, and type C (NPC) is the most common form. NPC is caused by mutations in
NPC1 or NPC2 genes, which are involved in the intracellular transport of lipids. Symptoms vary but
can include hepatosplenomegaly, neurological manifestations, and pulmonary involvement.

 Gaucher Disease:
Gaucher disease is an autosomal recessive disorder caused by mutations in the glucocerebrosidase
(GBA) gene, resulting in a deficiency of the enzyme glucocerebrosidase. This leads to the
accumulation of glucocerebroside within cells, primarily in macrophages. Gaucher disease has
multiple subtypes, with varying degrees of severity. Clinical features may include
hepatosplenomegaly, bone abnormalities, anemia, and thrombocytopenia.

Classification of Lipoprotein Disorders:

Lipoprotein disorders, also known as dyslipidemias, are classified based on the patterns of
abnormalities observed in lipoprotein profiles. The classification system provides insights into the
underlying causes, lipid profile characteristics, and associated clinical manifestations.

Primary Hyperlipoproteinemias:
Primary hyperlipoproteinemias are inherited disorders primarily caused by genetic mutations
affecting lipoprotein metabolism. They are categorized into five types, known as Fredrickson
classification or the Fredrickson-Levy-Lees classification:
  Type I: Familial Lipoprotein Lipase Deficiency
Characterized by severe deficiency or absence of lipoprotein lipase (LPL) enzyme activity, resulting in
elevated chylomicrons and triglycerides. Clinical manifestations include recurrent episodes of
abdominal pain, pancreatitis, and eruptive xanthomas.

 Type IIa: Familial Hypercholesterolemia

Characterized by elevated levels of LDL cholesterol (LDL-C) due to defects in LDL receptors or ApoB-
100. Clinical features include tendon xanthomas, xanthelasmas, and an increased risk of premature
cardiovascular disease.

 Type IIb: Combined Hyperlipidemia

Characterized by elevated LDL-C and triglycerides. There is often a defect in both LDL receptor and
LPL pathways. Clinical manifestations include features of both familial hypercholesterolemia and
familial lipoprotein lipase deficiency.

 Type III: Dysbetalipoproteinemia

Characterized by elevated levels of remnant lipoproteins (IDL) due to a deficiency of ApoE, resulting
in the formation of broad beta-lipoproteins. Clinical features include premature atherosclerosis and
xanthomas.

 Type IV: Familial Hypertriglyceridemia

Characterized by elevated levels of triglycerides due to impaired VLDL synthesis or increased VLDL
production. It is often associated with insulin resistance, obesity, and metabolic syndrome.

Secondary Dyslipidemias:
Secondary dyslipidemias are acquired disorders resulting from underlying medical conditions,
lifestyle factors, or medication use. They include:

 Metabolic Syndrome: A cluster of conditions, including central obesity, insulin resistance,

hypertension, and dyslipidemia (elevated triglycerides, low HDL cholesterol).
 Diabetes Mellitus: Both type 1 and type 2 diabetes can lead to dyslipidemia, characterized by
elevated triglycerides, low HDL cholesterol, and increased small dense LDL particles.
 Hypothyroidism: Low thyroid hormone levels can lead to increased levels of LDL cholesterol
and triglycerides.
 Nephrotic Syndrome: Proteinuria associated with kidney disease can result in reduced levels
of plasma proteins, including apolipoproteins, leading to elevated levels of cholesterol and
triglycerides.
 Medications: Certain medications, such as diuretics, beta-blockers, corticosteroids, and
immunosuppressants, can cause dyslipidemia as a side effect.

Monitorimi I barit terapeutik
HEKURI
 Fiziologjia e hekurit
 Marrja 0,35 mmol/dite
 Ne trup gjenden 50-70 mmol
 Feritina + hemosiderina
 Transferina
 Determinantet e jonit ne serum
 Transferina
 Feritina
 Protoporfirina e eritrociteve
 Deficiti I hekurit
 Zhvillimi I anemis
mjekimi
 Mbingarkimi me hekur
Mixed Hyperlipidemia:
Mixed hyperlipidemia refers to a combination of elevated LDL cholesterol and triglycerides. It can
occur in both primary and secondary dyslipidemias and is associated with an increased risk of
cardiovascular disease.
Hypoalphalipoproteinemia:
Hypoalphalipoproteinemia is characterized by low levels of high-density lipoprotein cholesterol
(HDL-C). It can be both primary (genetic) or secondary (acquired). Primary hypoalphalipoproteinemia
is often caused by mutations affecting ApoA-I or LCAT, while secondary hypoalphalipoproteinemia
can result from obesity, sedentary lifestyle, smoking, and certain medications. Low levels of HDL-C
are associated with an increased risk of cardiovascular disease.
Elevated Lipoprotein(a):
Lipoprotein(a) [Lp(a)] is a lipoprotein particle that consists of LDL cholesterol and Apo(a) protein.
Elevated levels of Lp(a) are considered an independent risk factor for cardiovascular disease. It is
primarily an inherited disorder, and the levels of Lp(a) are largely determined by genetic factors.
Remnant Lipoprotein Disorders:
Remnant lipoproteins, including chylomicron remnants and IDL, are remnants of triglyceride-rich
lipoproteins that are not efficiently cleared from the bloodstream. Remnant lipoprotein disorders are
associated with elevated levels of triglycerides and increased cardiovascular risk. They can be
observed in conditions such as familial dysbetalipoproteinemia (Type III hyperlipoproteinemia) and
certain secondary dyslipidemias.
Hekuri dhe metabolizmi i tij.
Hekuri eshte element qe permban Jonin qendror te Hemit, mioglobines, citokromit.
Mungesa e hekurit con ne  anemi dhe hipoksi indore.
Hekuri lidhet me
● feritinen dhe hemosiderinen ne depot indore
● Ne plazem lidhet me Transferinen
Ne trup gjenden 3-4g hekur, marrja ditore ushqimore eshte 20 mg.
Huluntimet laboratorike te crregullimit te hekurit.
Disa hulumitme laboratorike qe bëjmë per te pare çrregullimet e hekurit janë:
1.Determinantet e jonit ne serum:
- Kane vlera shume te vogla
- Vlersojne mbiakumulimin me Hekur
 Hemokromatoza
 Helmimi me hekur
50-70 mmol (3-4 gr) hekur ne trup; ¾ kompleks me
hemin
shumica e hekurit te lire depozitohet ne FERRITIN;
HEMOSIDERIN
Marrja ditore= 20 mg/dite
perqendrimi ne serum= 18-45 umol/l tek meshkujt dhe
14-32 umol/l tek femrat
Hekuri transportohet ne plazme lidhur me
transferinen; cdo molekul hekuri lidhet me 2 Fe 3+;
bashke me nje anion bikarbonat
Ulin hekurin ne serum acute phase response
infection; trauma and malignant disease
2.Transferina:
- rreth 30% eshte e ngopur me hekur
- Kur saturimi <15% kemi mungese hekuri , >30 mbiakumulim.
- Ajo zvogelohet ne gjendjet akute dhe malnutricion energjiko-proteinik.
3.Ferritina ne serum:
- Treguesi me i mire per rezervat e hekurit ne trup
- Norma >12𝑢g/L
- Patologjite akute e rrit vlerën
4.Protoporfirina e eritrociteve:
- Perkursor i Hemit
- Vlerat rriten ne porfiri dhe ne ekspozim ndaj Plumbit.
Teste te tjera qe kërkohen per hulumtim me te plote te gjendjes se hekurit:
- Perqendrimi i hemoglobinës
- Pamja e eritrociteveve (tek mungesa e Fe)
- Biopsia e heparit (tek mbingarkesa e Fe)
Deficiti i hekurit, shkaqet , diagnoza laboratorike.
Anemia nga mungesa e Fe dëmton kualitetin e jetës.
Shkaqet:
- Humbje kronike e gjakut:
🡺 Patologji malinje
🡺 Semundje TGI ,Prani parazitësh ne zorre
- Marrja e pamjaftueshme e hekurit:
🡺 Dieta e varfër me hekur
🡺 Gjendjet malabsorbuese si Celiakia
- Shtatzania : rriten kërkesat per Fe nga fetusi
Diagnoza :Anemia nga mungesa hekurit zhvillohet ne 3 faza:
- 1. Shterimi i rezervave te hekurit --> feritina ne serum <12ug/L.
- 2. Eritopoeza deficitare me Hb normale, por me protoporfiri te rritur eritorictare (perqendrimi
hekurit zvogelohet, sinteza transferines rritet, perqendrimi saturimit zvogelohet).
- 3. Ulja e hekurit dhe hemoglobinës → Gjendjet hipokrome mikrocitare. Ne mielograme shihet pak
hekur.
Mbingarkesa me hekur, hemokromatoza, shkaqet ,diagnoza laboratorike.
Shkaqet:
● Tansfuzione kronike te gjakut
● Nutricion jo i duhur parenteral
● Ne gjendjet me hematopeze joefektive (Isuf. Renale)
● Hemokromatoza
● Helmimi me hekur
● Terapite me hekur

Hemokromatoza.
Semundje qe karakterizohet me rritje te përthithjes se hekurit (2-3fishim deri ne 10fishim rritje
hekuri) → dhe me pas depozitim ne organe te ndryshme.
Pasojat: krijimi i radikaleve te lira , Fibroze dhe isuficience organore.
Shkaku – mutacion gjenetik qe kodon per GlikoProteinen qe lidh B2 mikroglobulinen, qe me pas
lidhet me receptorin e transferines dhe kontrollon kapjen e hekurit.

Klinika :Grate kane shenja me te lehta se burrat (humbin hekur me mensutruacione dhe shtatezani).
Klinika: - Dobesi kronike ;- Pigmentim lekure;- Cirroze hepatike;- DM ;- kardiomiopatia

Diagnoza :
- Rritje e hekurit ne serum
- Saturimi i transferines -> testi me sensitivitetin dhe specificitetin me te larte.
- Ferritina ne serum > 500ug/L (12ug norma)
- Tipizmi i gjeneve -> vërteton Hemokromatozen hereditare
- Biopsia e heparit tregon per mbiakumulim Hekuri

Iron is an essential mineral that plays a vital role in various biological processes in the body.
Understanding iron physiology is crucial for comprehending its absorption, transport, storage, and
utilization.

Iron Absorption:
Iron is primarily absorbed in the duodenum and proximal jejunum of the small intestine. The
absorption of dietary iron is tightly regulated by the body to maintain iron balance.

Iron absorption is regulated by several factors:

Iron Status: The body adjusts iron absorption based on its iron stores. When iron stores are low,
absorption is increased, and vice versa. This regulation is primarily controlled by the hormone
hepcidin.

Dietary Factors: Certain dietary components can enhance or inhibit iron absorption. For example,
vitamin C enhances non-heme iron absorption, while substances like phytates, oxalates, and
tannins can inhibit absorption.
Iron Transport:
Once absorbed, iron is transported in the bloodstream bound to transferrin, a plasma protein that
carries iron throughout the body. Transferrin has two iron-binding sites, and each transferrin
molecule can bind two iron atoms.
Iron bound to transferrin is delivered to various tissues, including the bone marrow for red blood
cell production, liver for storage, and other cells for utilization.

Iron Storage:
The liver is the primary site for iron storage in the form of ferritin and hemosiderin.
Ferritin: Ferritin is a cytosolic protein complex that can store thousands of iron atoms in a non-toxic
and bioavailable form. Ferritin levels reflect the body's iron stores, and it can release iron when
needed.

Hemosiderin: Hemosiderin is a complex of aggregated ferritin molecules. It represents an insoluble

and less readily available form of stored iron. Hemosiderin is formed when iron stores exceed
ferritin's storage capacity.

Iron Utilization:
Iron is essential for various physiological processes, with the majority of iron being used for
erythropoiesis (production of red blood cells). Iron is a critical component of hemoglobin, the
oxygen-carrying protein in red blood cells. Iron is also required for the functioning of various
enzymes involved in energy production, DNA synthesis, and immune function.

Iron Recycling:
Iron recycling occurs through the breakdown of old or damaged red blood cells by macrophages in
the spleen, liver, and bone marrow. Macrophages phagocytose the red blood cells and release iron
from hemoglobin. This iron is then transported back to the bloodstream bound to transferrin for
reuse.

Total Iron Binding Capacity (TIBC):

 Total Iron Binding Capacity (TIBC) is a measure of the total amount of iron that can be
bound by transferrin in the blood. TIBC reflects the iron-carrying capacity of transferrin and
indirectly indicates the availability of transferrin to bind and transport iron.
 TIBC is determined by adding excess iron to a serum sample and measuring the unbound
iron that remains. It is reported as a concentration (e.g., µg/dL) or as a percentage
saturation (the ratio of serum iron to TIBC multiplied by 100%).
Serum Iron (Fe):
 Serum iron measures the concentration of iron in the blood. It represents the iron that is
bound to transferrin and is available for transport to cells. Serum iron levels can fluctuate
 throughout the day and can be influenced by various factors such as recent iron intake, iron
metabolism, and underlying conditions.
Transferrin Saturation:
 Transferrin saturation is calculated by dividing the serum iron concentration by the TIBC and
multiplying by 100. It represents the percentage of transferrin that is bound to iron.
 Transferrin saturation is a useful parameter in assessing iron status. Normal transferrin
saturation ranges from 20% to 50%. Values below 20% may indicate iron deficiency, while
values above 50% can be associated with iron overload conditions.
Serum Ferritin:
 Serum ferritin is a measure of the body's iron stores. Ferritin is an intracellular protein that
stores iron in a non-toxic form. Serum ferritin levels correlate with the amount of iron stored
in the body.
Interpretation of Serum Iron Determinations:

Iron Deficiency: Low serum iron, low transferrin saturation, and low serum ferritin levels are
characteristic of iron deficiency anemia. These results indicate inadequate iron supply to meet the
body's needs.

Iron Overload: Elevated serum iron, high transferrin saturation, and elevated serum ferritin levels
can be seen in iron overload conditions, such as hereditary hemochromatosis or hemosiderosis.
These results indicate excessive iron accumulation in the body.

Anemia of Chronic Disease: In some chronic inflammatory conditions, serum iron may be low or
normal, but serum ferritin levels are elevated due to inflammation-induced changes in iron
metabolism.

Normal Iron Status: Normal iron status is indicated by normal levels of serum iron, transferrin
saturation, and serum ferritin within the appropriate reference ranges.

It is important to interpret serum iron determinations in conjunction with other clinical and
laboratory findings to make an accurate diagnosis and guide appropriate management of iron-
related disorders.

Iron Deficiency:

Iron deficiency is a common nutritional disorder characterized by inadequate levels of iron in the
body. It is a significant global health problem, affecting individuals of all ages and socioeconomic
backgrounds. Iron deficiency can lead to iron deficiency anemia, a condition marked by a decrease
in red blood cells and hemoglobin levels.
Iron Metabolism and Role of Iron:
Causes of Iron Deficiency:
Iron deficiency can arise from several factors, including:

 Inadequate Dietary Intake: Insufficient consumption of iron-rich foods, particularly in

individuals with poor dietary habits or restrictive diets, can contribute to iron deficiency.
 Increased Iron Requirements: Certain life stages and conditions increase the body's iron
needs, such as pregnancy, lactation, rapid growth in infants and adolescents, and recovery
from significant blood loss.
 Impaired Iron Absorption: Conditions that affect iron absorption in the gastrointestinal tract,
such as celiac disease, inflammatory bowel disease, or surgeries that alter the anatomy of
the small intestine, can contribute to iron deficiency.
 Chronic Blood Loss: Chronic or recurrent bleeding can deplete iron stores over time.
Common sources of blood loss include heavy menstrual bleeding, gastrointestinal bleeding
(e.g., ulcers, tumors), and frequent blood donation.

Clinical Features of Iron Deficiency:

Iron deficiency can manifest with a range of symptoms and signs, including:
Fatigue and Weakness: Reduced oxygen-carrying capacity of red blood cells due to decreased
hemoglobin levels can result in fatigue, weakness, and decreased exercise tolerance.

 Pallor: Iron deficiency affects the production of red blood cells, leading to paleness of the
skin, mucous membranes, and conjunctiva.

 Brittle Nails and Hair Loss: Iron deficiency can affect the health and growth of nails and hair,
resulting in brittle nails and hair loss.

 Cognitive and Behavioral Changes: Severe iron deficiency in children can lead to cognitive
impairments, poor concentration, and behavioral changes.

 Pica: Some individuals with iron deficiency may develop cravings for non-food substances,
such as ice, clay, or dirt (known as pica).

Laboratory Findings:
Laboratory tests are essential for diagnosing iron deficiency. Key findings include:
 Decreased Serum Iron: Serum iron levels are reduced in iron deficiency due to decreased
iron stores.
 Low Transferrin Saturation: Transferrin saturation, which reflects the amount of iron bound
to transferrin, is typically low in iron deficiency.
  Decreased Serum Ferritin: Serum ferritin levels are the most reliable indicator of iron stores.
In iron deficiency, serum ferritin is usually significantly decreased.
 Microcytic Hypochromic Anemia: Iron deficiency anemia is characterized by small red blood
cells (microcytosis) with decreased hemoglobin content (hypochromia).

Treatment and Management of Iron Deficiency:

The treatment and management of iron deficiency aim to replenish iron stores and address the
underlying cause. Here are some key aspects:
 Iron Supplementation: Oral iron supplements, typically in the form of ferrous salts, are
prescribed to increase iron levels. The recommended dosage and duration of supplementation
may vary depending on the severity of the iron deficiency and individual patient factors. It's
important to take iron supplements as directed by a healthcare professional.
 Dietary Modifications: Consuming iron-rich foods can help prevent and treat iron deficiency.
Good dietary sources of iron include red meat, poultry, fish, legumes, fortified cereals, green
leafy vegetables, and dried fruits. Combining iron-rich foods with sources of vitamin C can
enhance iron absorption.
 Treating Underlying Conditions: If iron deficiency is secondary to an underlying condition, such
as gastrointestinal bleeding or chronic inflammatory diseases, treating the underlying cause is
essential. This may involve medications, surgical interventions, or lifestyle modifications.
 Blood Transfusions: In severe cases of iron deficiency anemia, particularly when rapid correction
is needed, blood transfusions may be necessary to replenish iron stores and improve symptoms.
This approach is generally reserved for critical situations and is carefully evaluated on a case-by-
case basis.

Hemochromatosis is a hereditary disorder characterized by excessive absorption and accumulation

of iron in the body. It is one of the most common genetic disorders, predominantly affecting
individuals of Northern European descent.

Types of Hemochromatosis:
 There are two main types of hemochromatosis:
Hereditary Hemochromatosis (HH): This is the primary form of hemochromatosis and is primarily
caused by mutations in the HFE gene. It is inherited in an autosomal recessive manner. The HFE gene
mutations disrupt the normal regulation of iron absorption from the intestines, leading to excessive
iron accumulation.

Secondary Hemochromatosis: This type of hemochromatosis is acquired and occurs as a result of

other underlying conditions or factors that cause increased iron absorption or multiple blood
transfusions. Some of the conditions associated with secondary hemochromatosis include chronic
liver disease, chronic anemias requiring frequent transfusions, and excessive iron supplementation.
Iron Metabolism in Hemochromatosis:
Hemochromatosis disrupts the normal regulation of iron metabolism, leading to increased iron
absorption and deposition in various organs and tissues. Normally, iron absorption is tightly
controlled by the interaction between the HFE protein, transferrin receptor, and hepcidin. Mutations
in the HFE gene result in decreased production of hepcidin, a hormone that regulates iron
absorption. As a result, there is increased iron uptake from the diet, leading to iron overload.

Clinical Features of Hemochromatosis:

Hemochromatosis can present with a wide range of symptoms and complications, including:

Fatigue and Weakness: Excessive iron accumulation can affect cellular energy metabolism, leading to
fatigue and weakness.

Joint Pain and Arthritis: Iron deposition in the joints can cause joint pain, stiffness, and eventually
lead to arthritis.

Abdominal Pain: Iron overload can result in liver enlargement (hepatomegaly) and may progress to
liver cirrhosis, leading to abdominal discomfort or pain.

Skin Bronzing: A characteristic bronze or grayish coloration of the skin, known as "bronze diabetes,"
can occur in advanced cases of hemochromatosis.

Diabetes Mellitus: Iron deposition in the pancreas can disrupt insulin production and lead to the
development of diabetes mellitus.

Cardiac Dysfunction: Excess iron deposition in the heart can result in cardiomyopathy, heart failure,
arrhythmias, and an increased risk of cardiac events.

Laboratory Findings:
Laboratory tests are essential for diagnosing hemochromatosis. Key findings include:
Increased Serum Ferritin: Serum ferritin levels are elevated in hemochromatosis due to excess iron
stores.

Increased Transferrin Saturation: Transferrin saturation, the ratio of serum iron to total iron-binding
capacity (TIBC), is elevated in hemochromatosis.

Liver Function Tests: Iron overload can cause liver damage, resulting in elevated liver enzymes and
abnormal liver function tests.

Genetic Testing: Genetic testing can identify specific mutations in the HFE gene associated with
hereditary hemochromatosis.

Complications of Hemochromatosis:
If left untreated, hemochromatosis can lead to severe complications, including:
Liver Cirrhosis: Prolonged iron overload can cause liver fibrosis and cirrhosis, leading to liver
dysfunction and potential liver failure.

Cardiomyopathy and Heart Failure: Excess iron deposition in the heart can lead to cardiomyopathy,
impaired heart function, and an increased risk of heart failure.

Diabetes Mellitus: Iron overload can disrupt pancreatic function, leading to insulin resistance and the
development of diabetes mellitus.

Arthritis and Joint Damage: Iron deposition in the joints can cause chronic joint pain, inflammation,
and eventually lead to joint damage and limited mobility.

Endocrine Disorders: Iron accumulation in the endocrine glands can affect hormone production and
result in hormonal imbalances.

Sources of Iron Poisoning:

Iron poisoning most commonly occurs due to the ingestion of iron supplements, particularly in young
children. Accidental ingestion of iron supplements, especially those that resemble candy or colorful
objects, can lead to toxicity. Other potential sources of iron poisoning include high-dose iron
medications, certain herbal or dietary supplements, and industrial or occupational exposures to iron
compounds.

Mechanism of Iron Poisoning:

Iron poisoning causes toxicity through multiple mechanisms:

Cellular Damage: Excess iron leads to the generation of reactive oxygen species (ROS) through
Fenton reactions. ROS can damage cell membranes, proteins, and DNA, resulting in cellular
dysfunction and tissue injury.

Gastrointestinal Effects: Iron compounds can cause direct irritation and corrosive effects on the
gastrointestinal tract, leading to abdominal pain, vomiting, and diarrhea.

Systemic Effects: Elevated levels of circulating iron can cause systemic toxicity and affect various
organs, including the liver, heart, and central nervous system.

Clinical Presentation:
The signs and symptoms of iron poisoning can vary depending on the amount of iron ingested and
the time elapsed since ingestion. The following clinical features may be observed:
Early Stage (Within 6 hours): Gastrointestinal symptoms are predominant and may include
abdominal pain, nausea, vomiting (which may be bloody), and diarrhea. Dehydration and metabolic
acidosis may also occur.

Latent Stage (6-48 hours): A temporary improvement in symptoms may occur during this stage.
However, internal damage may continue to progress.

Late Stage (48-96 hours): Systemic toxicity becomes apparent, including signs of liver dysfunction
(jaundice), cardiovascular instability (hypotension, tachycardia), and central nervous system effects
(lethargy, seizures, coma).

Diagnostic Evaluation:
Diagnosis of iron poisoning is based on a combination of clinical presentation, history of iron
ingestion, and laboratory tests. The following evaluations may be conducted:
History and Physical Examination: A thorough history, including the possibility of iron ingestion, and
a physical examination to assess the severity of symptoms and signs of systemic toxicity.

Iron Levels: Serum iron levels are measured to confirm iron toxicity. Elevated levels are indicative of
iron poisoning.

Blood Tests: Complete blood count (CBC), liver function tests, kidney function tests, and coagulation
profile may be performed to evaluate the extent of organ damage.

Abdominal X-ray or CT Scan: Imaging studies may be used to detect the presence of iron tablets or
capsules in the gastrointestinal tract.

Treatment and Management:

The management of iron poisoning involves both supportive care and specific interventions. Key
treatment measures include:
Decontamination: If the ingestion was recent and the patient is stable, gastric lavage (stomach
pumping) or administration of activated charcoal may be considered to prevent further absorption
of iron.

Chelation Therapy: Administration of iron-chelating agents, such as deferoxamine, is the mainstay of

treatment for severe iron poisoning. Deferoxamine binds to excess iron and facilitates its elimination
from the body.

Supportive Care: Supportive measures include intravenous fluid resuscitation to maintain hydration,
correction of electrolyte imbalances, and treatment of symptoms such as pain, vomiting, or seizures.

Monitoring and Observation: Close monitoring of vital signs, cardiac function, liver and kidney
function, and blood parameters is crucial to assess the response to treatment and detect any
complications.

Fiziologjia e hekurit

Hekuri eshte nje nga elementet me te rendesishem per funksionimin e organizmit te njeriut.

 Ai ndodhet ne qender te hemit I cili perben grupin prostetik , apo pjesen joproteinike te
hemoglobines.
 Ai se bashku me vargjet globinike te cilat jane te disa llojeve, perben molekulen komplekse
me stukture kuaternare , hemoglobinen.
 Nese do te mungonte Fe , nuk do te sintetizohej hemi, nuk do te bartej oksigjeni ne inde per
pasoje do te kishim anemi dhe hipoksi te indeve.
 Oksigjeni mbartet ne fakt nga hemi, I cili perbehet nga kater unaza pirrolike. Keto unaza
lidhen me njera tjetren me ura metinike (–CH), kane 4 grupe metile (-CH3), 2 grupe vinile (-
CH2=CH2), dhe 2 grupe proprionate (–CH2-CH2-COOH).
 Fe qendror tek hemi ka 6 lidhje kordinative ;
kater lidhje kordinative okupohen me lidhjet me 4 unazat e pirrolit.
Mbeten dhe 2 lidhje kordinative te cilat okupohen ,
njera nga histidina e vargut globinik dhe l
idhja e gjashte kordinative e jont te Fe eshte vendi ku lidhet oksigjeni.
 Fe hemik duhet te jete me valence +2 qe te mund te kryeje transportin e oksigjenit.
 Ruajtja e formes ferroze te Fe sigurohet nga xhepi hidrofob I siguruar nga palosja e vargut
globinik.
 Ne kete mjedis ruhet forma ferroze e hekurit.
 Nese Fe do te binte ne kontakt me H2O do te kthehej menjehere ne Fe+3, gje e cila bllokon
ne menyre te pakthyeshme lidhjen me O2.

Nivelet e hekurit ne organizem sigurohen dhe kontrollohen nga marrjet e Fe me diete, nuk ka
mekanizma te kontrollit apo eskrecionit te tij.

 Marrja e hekurt me ushqim eshte afersisht 20 mg ne dite.

 Nuk mund te shtohet kjo sasi duke rritur marrjet ushqimore.
  Ne trup gjendet ne total rreth 3 gr hekur.
 Nga sasia ditore e marre rreth 10% perthithet dhe pjesa tjeter eleminohet me fece.
 Pjesa me e madhe e tij reth 75%, futet ne perberje te hemit/hemoglobines ne rruazat e
kuqe te gjakut.
 Fe i hemit i jep ngjyren e kuqe hemoglobines , e cila I jep ngjyren e kuqe gjakut.
 Pjesa tjeter , rreth 20% e Fe te perthithur depozitohet ne hepar dhe palcen e kockave te
gjata ne forme te ferritines dhe rret 5% ndodhet tek mioglobina e muskujve.
 Hekuri ne depot indore eshte I lidhur me nje proteine te depozitimit te Fe , ferritinen qe
eshte e tretshme dhe hemosiderinen qe eshte e patretshme dhe psh gjendet ne makrofaget
e palces se kockave.
 Rreth 1% e Fe te trupit , bartet ne plazem nga transferina apo proteina e transportit te
hekurit.
 Eleminimi fiziologjik I hekurit pervec feceve kryhet dhe permes deskuamimit te epitelit saj,
urines dhe ciklit menstrual, dhe djersa sidomos tek sportistet.

Tek femrat tregues I deficitit te hekurit eshte nje ferritinemi < 20 ng/ml dhe tek meshkujt
ferritinemi < 40ng/ml.

Hulumtimet laboratorike te crregullimeve te hekurit.

Matja e sideremise apo determinantet e joint te Fe ne serum ka vlere te kufizuar ne rutinen

mjeksore, pervec rasteve te mbiakumulimi ne hekur. Shume laboratore e mjeke ende vazhdojne te
kerkojne sideremine per te vleresuar deficitin e Fe. Ky test ka vlere te vogel pasi nje sideremi e ulet
siguron 50% mundesi per te vleresuar deficitin e Fe (specificiteti 50%). Sideremia ulet nga
inflamacioni.

-Ferritina ne serum eshte treguesi me I mire I rezervave te Fe ne organizem. Perqendrimi I saj

normalisht eshte mbi 20ng/ml. Ferritina eshte dhe nje reaktiv I fazes acute, e cila rrit ne te gjitha
rastet koncentrimin e saj ne serum. Pra inflamacioni rrit ferritinen dhe ul sideremine.

-Transferina mund te matet drejtperdrejt ne serum ose terthorazi si kapacitet total per lidhjen e
hekurit (TIBC). Normalisht rreth 30% e transferines eshte e ngopur me hekur. Kur saturimi bie ne
15% tregohet mungese hekuri. Perqindje me e larte saturimi tregon mbingarkese hekuri.

-Protoporfirina eritrocitare, nje precursor I hekurit, rritet qartazi ne gjendjet e mungeses se hekurit.
Perqendrimi normal eshte <1 μmol/L te eritrociteve. Nivelet mund te jene te rritura ne disa formave
te porfirise dhe te ekspozimit ndaj komponimeve organike me plumb.

-Per hulumtimin e gjendjes se hekurit kerkohet dhe perqendrimi I Hb ne gjakun periferik, pamja apo
struktura morfologjike e eritrociteve ne ekzaminim mikroskopik.( tek deficit) dhe biopsia hepatike
(tek teprica)

Nje femer adulte normalisht ka depo te Fe apo ferritinemi 60-70 ng/ ml , dhe koncentrim te Hb >
12 gr / dl , ndersa nje mashkull adult ka ferritinemi prej 120-140 ng/ ml dhe Hb >13 gr/dl.

Deficiti I hekurit

Deficiti I hekurit dhe pasojat, nje nga te cilat eshte anemia, perben nje nga problemet me te
shpeshta ne praktiken mjeksore. Jo te gjitha rastet me deficit te Fe kane me detyrim anemi .
Shumica e rasteve eshte vetem deficit I Fe, I pa shoqeruar me anemi. Treguesi me I mire I deficitit te
hekurit eshte ulja e ferritinemise, feritinemia < 20ng/ml femrat dhe < 40ng/ml tek meshkujt
tregon 100% mungese te hekurit. Mungesa e hekurit nuk eshte problem marrje i Fe pra nuk
shkaktohet nga ushqimet dhe nuk korrigjohet me ushqimet. Mungesa, ne shumicen e rasteve ,
eshte problem humbjes te hekurit , (me pak konsum I shtuar ,mosthithje dhe ne fund pakesim ne
marrje).

Anemia nga mungesa e Fe eshte me e shpeshta nga te gjitha deficitet e shkaktuara nga nje nutrient I
vetem dhe demton cilesine e jetes. Shkataret kryesore jane humbja kronike e gjakut, dhe shume me
pak marrja e pamjaftueshme, psh semundja e celiakise prej malabsorbimit.

 Kur flasim per anemi nga deficit duhet te gjendet shkaktari baze si semundjet malinje,
prania e paraziteve te zorreve,dhe cilado patologji tjeter gastrointestinal qe mund te jape
humbje kronike gjaku.

Tek grate edhe kur ushqehen mire mungesa e hekurit eshte e shpeshte.
Femrat ne periudhen riprodhuese (pubertet deri ne menopause) ankojne keto problem.
Meshkujt shume me pak dhe vetem kur kane gjakderdhje te perseritura nga hemorroidet , ulcera ,
kancer pra ne raste patollogjike (qe mund ti kene edhe femrat)
Perse femrat?
Sepse kane cikel menstrual. Pervec kesaj depot e hekurit tek femrat ½ e atyre te meshkujve.
Shtatzania edhe se nuk ka cikel por rrit konsumin e Fe, me tej lindjet natyrale apo me kirurgji,
ushqyerja me gji dhe me pas rifillon cikli menstrual, pra te gjitha hapat e kesaj rruge shoqerohen me
humbje te Fe.

90-95% e shkakut te deficitit te Fe eshte cikli menstrual

4-5% jane shkaktuar nga humbjet e dukshme, te padukshme te gjakut me urine, fece, djerse,
mbikonsum nga parazitet,tumoret ,shtatzanesia.

Anemia nga mungesa e hekurit zhvillohet ne tre faza:

1. Shterja e rezervave, nivelet e ferritines nen 20 ng/ml,

2. Eritropoeze deficitare me Hb normale. Rritet sinteza e transferines, ulet saturimi I saj.
3. Shfaqet anemia nga deficit, ulet Hb. Gjndet anemi hipokrome, mikrocitare ne ekzaminimin e
gjakut periferik. Mielograma me ulje te hekurit dhe shtim te prekursoreve te series se kuqe.

Paketa me emire per te vleresuar anemone ne praktiken e perditshme eshte kerkimi I gjakut
komplet, ferritinemise dhe elektroforezes se Hb. Kjo e fundit pasi tek ne si vend mesdhetar kemi
bartes te Hb-pative. Keshtu elektroforeza zbulon bartesit e drepanocitozes , por jo te gjitha rastet e
bartesve te talasemive. Nese do testohet dhe hemoliza duhet LDH, retikulocitet, bilirubina totaled he
indireket dhe niveli I haptoglobines.Sideremia nuk ka shume vlere ne diagnose, vecse kur duhet te
llogaritet saturimi I transferines(sideremi / TIBC x 100). Kjo ka vlere me shume tek hiper
ferritinemia.

Mjekimi I deficitit te Fe

Ferritinaemia nuk korrigjohet me ushqim por vetem me preparate. Fe sulfat dhe Fe fumarat jane
kriperat e hekurit me te mirat per korrigjimin e deficitit ne hekur, qe merren me rruge orale. Mund
te merren dhe me rruge i/m glukonat ferroz I Na. Doza ditore e duhur per te korrigjuar deficitin
eshte 180 -200 mg hekur elementar ne dite. Kohezgjatja minimum 1.5 muaj. Keshtu nese
eleminohet shkaku dhe ka nje thithje te mire te Fe te preparatit mund te pretendohet sukses ne
trajtim. Mbushja e mire e rezervave kerkon kohe te gjate deri ne 6 muaj.
Trajtim. Heferol 2 tab ne dite dhe ferograd 2 tab ne dite = 4.5 kg mish I kuq, qe eshte dhe ushqimi
me I pasur me hekur. Kriperat e hekurit duhet te shoqerohen me vit C dhe B6 per te siguruar thithjen
e Fe. Hekuri I dhene permes suplementeve ushqimore nuk korrigjon deficitin e Fe.

Mbingarkesa me hekur.
Transfuzionet kronike te gjakut, nutricion jo I duhur parenteral, hematopoeze jo efektive si ne rastet
e insuficienca renale , mund te japin mbiakumulim te Fe ne organizem.Hemokromatoza dhe
helmimi me hekur jane dy shkaqe te tjere te rendesishem.Nivelet e ferritines jane shume te larta.

Hemokromatoza eshte semundje e shpeshte qe shkaktohet nga perthithje e shtuar e Fe , 2-3 x me

shume se vlerat normale. Kjo con ne depozitim te Fe ne organe te ndryshme, ku permbajtja totale e
hekurit ne trup mund te rritet deri ne 10 –fish. Hekuri ne kete permbajtje krijon fibroze dhe
insuficience te organit.Semundja shkaktohet nga nje mutacion specific , ne genin HFE; ky kodon nje
glikoproteine qe lidh Beta 2 mikroglobulinen. Ky kompleks lidh receptorin e transferines (Tfr), dhe I
gjithe kompleksi kontrollon kapjen e Fe.Shenjat klinike variojne shume, ne subjekte te ndryshim, te
ndikuar nga marrjet dietetike te Fe, konsumi I alkolit, seksi (femrat balancojne teprine me humbjet e
shtuara).Shenjat klinike perfshijne dobesi trupore, pigmentim I lekures, diabet mellitus,
kardiomiopati, cirroze hepatike.etj.

Sideremia eshte e rritur, me transferinen te saturuar teresisht. Saturimi i transferines eshte testi
me specific dhe sensitive per dg e hemokromatozes. Por dhe ferritinemia tregon vlera te larta ,
>500 μg/L. Diagnoza vendoset me teste te biologjise molekulare, me sensitivite 99%

Trajtimi behet me largim venoz te gjakut. 100 ml gjak llogaritet te largoje rreth 250mg Fe.

Specifiteti aftesia e testeve diagnostike per te vleresuar ne menyre korrekte individet pa

semundjen e interesit
Sensitiviteti aftesia e testeve diagnostike per te vleresuar ne menyre korrekte indivitet me
semundje te interesit
Infarkti akut i miokardit?
Patologjia, diagnoza, markuesit kardiak dhe interpretimi i tyre ne ndihme te diagnozes dhe ecurise
se semundjes?
Definition: Infarkti akut i miokardit eshte: nekroze e miociteve kardiake qe ka rezultuar nga ishemia.
Ishemia ne rastin e infarktit akut te miokardit vjen si pasoje e nje obstruksioni akut te arterieve
koronare.
Patologjia:
* shkaku kryesor i IM eshte ateroskleroza
1. Okluzion i arterieve koronare:
nderprerje e qarkullimit te gjakut ne nje ose me shume nga aa. Koronare
zakonisht per shkak te: formimit te trombit ne nje pllake aterosklerotike te ruptuar
2. ishemia:
nderprerja e qarkullimit te gjakut  minuta pas okluzionit  te furnizimit me o2 te
miociteve kardiake
demtimet ishemike mund te jene te kthyshme, por ne rast se ishemia persiston ato behen te
pakthyeshme
3. Demtime dhe vdekje e miociteve kardiake: (nekroze; tipikisht nekroze koagulative)  4. Pergjigje
inflamatore 5. Scar formation
 manifestimi klinik: dhimbje e gjoksit ose ANGIN
Markuesit kardiak dhe interpretimi i tyre ne ndihme te diagnozes:
per te percaktuar diagnozen e IM, duhet te plotesohen dy nga kushtet e meposhtme:
 dhembje e madhe e gjoksit, vleresohet nga ANAMNEZA, mund te kete MI te heshtur
 ndryshime ne EKG, ngritja e segmentit ST eshte tipike per pt me IM, por ndryshimet ne EKG mund
te jene te dyshimta ose nuk shfaqen deri ne 30% te pt
 lirimi i enzimave kardiake
MARKERAT KARDIAK// enzimat kardiake: (enzimat ngrihen relativisht vone dobia e tyre eshte e
kufizuar ne kontekstin akut)
1. Vdekja e qelizave te miokardit lirim te permbajtjes se tyre
2. KREATIN KINAZAT ck; ASPARTAT AMINO-TRANSFERAZAT ast; IZOENZIME E LAKTAT
DEHIDROGJENAZES (ldh1) [hidroksibutirat dehidrogjenaza]
3. CK-MB
a. CK-MB eshte pecifike e miokardit; ne ndryshim nga CK-MM qe gjendet nga muskujt
skeletik
b. RRITJE se paku 1-3 ore pas nje MI, arrin pikun brenda 24 oreve dhe kthehet ne vlera
normale 48-72 ore
c. Vlera diagnostike: matjete te CK-MB jane te perdorshme ne diagnozen e IM akut;
vecanerisht kur merren edhe vlerat te rritura te troponinesl
d. Ka dy izoenzimaCK-MB1 dhe CK-MB2 ; ku CK-MB2 predominon ne miokard
e. Aktivitet i shprehur i CK-MB/ raport i aktivitetit total te CK specifitet diagnostik
matje te mases ne vend te aktivitetit sensitivitet diagnostik
f. Limitimet: CK-MB mund te rritet ne semundje te tjera vec IMA; si demtime te
muskujve skeletik; kirugji
gjysme jete te shkurter limiton perdorimin e saj ne dedektim te demtimeve
kardiake te vogla ose te vonuara
4. Mioglbina:
a. Ka sensitivitet diagnostik prej 95% ne 6 oret e para
b. Nuk eshte specifike per miokardin
c. Mund te rritet edhe ne gjendje te tjera
d. Me e dobishme kur nuk zmbulohet pasi eleminon mundesin e IM
5. Troponinat:
a. Dy izoforma D dhe I
Infarkti akut i miokardit (IAM)
IAM – vrasesi kryesor ne shoqerite perendimore.
Ne vendin tone semundshmeria nga IAM eshte shume e larte.
Diagnoza klinike e IAM bazohet ne shenjat klinike si dhimbja e gjoksit, ndryshimet karakteristike
elektrokardiografike (EKG) dhe konfirmohet nga ndryshimet e aktivitetit dhe perqendrimit plazmatik
te disa enzimave dhe proteinave.
Diagnoza e shpejte = terapi e shpejte qe premton prognoze me te mire.
Per kete arsye kerkohet qe markuesit biokimike te jene specifike, te ndjeshem dhe qe ndryshojne
shpejt.
Sindromi akut koronar
Eventet biokimike pas Infarktit
• Mbyllja e arteries koronare
• Ishemi e miokardit
• Anoksi (mungese O2) demtohen pompat ATP vartese; clirohet K
• Pakesim i qarkullimit kolateral clirim i metaboliteve p.sh. Laktat
• Demtimi i kthyeshem
• Demtim i pakthyeshem demtim i membranes, clirim i enzimave dhe (vdekje qelizore
dhe nekroze indore) proteinave
Biomarkuesit kardiake
Demtimi iskemik i qelizes se miokardit shoqerohet me prishje te integritetit te membranes qelizore.
Per pasoje, permbajtja e qelizes del ne qarkullim. Vlera e markuesve intraqelizore ne percaktimin e
shkalles se demtimit te miokardit lidhet me :
Lokalizimin intraqelizor: komponentet citosolike arrijne ne gjak me shpejt se komponentet
strukturale
Madhesine e molekulave: molekulat e vogla arrijne ne gjak me shpejt se molekulat e medha
Specifitetin indor: markuesit specifike per indin kardiak sigurojne specificitet me te larte ne
diagnostikim
Biomarkuesit kardiake
Ne vitin 1950 – raportimet e para klinike se clirimi i transaminazave ne gjak gjate vdekjes se miocitit
mund te detektohet permes testeve laboratorike duke ndihmuar ne diagnozen e infarktit te
miokardit
Markuesit e pare te propozuar perfshijne AST, LDH, CK totale
Keto enzima jane pak specifike pasi clirohen nga tipe te ndryshme miocitesh e qelizash
Sensitiviteti dhe specificiteti i ulur per nekrozen e muskulit kardiak stimuluan studime te metejshme
Aspartat aminotransferaza (AST)
Gjendet ne perqendrime te larta ne qelizat e muskulatures kardiake dhe skeletike, hepar, veshka dhe
RBC. Demtimi i ketyre indeve shoqerohet me shtim te AST ne plazem
Shkaqet e rritjes se AST ne plazem
artefakt (hemoliza e kampionit)
fiziologjik (neonati 1,5 here me te larte se adulti)
shtim akut i rendesishem (>5 here): shok cirkulator me hipoksi, infarkt miokardi, hepatit akut viral
ose toksik
shtim i moderuar dhe i ngadalte: cirroze, mononukleoze, ikter kolestatik, infiltrime malinje te
heparit, semundje te muskulit skeletik, pas traumes ose kirurgjise, hemoliza e rende, medikamente
te ndryshme
AST dhe IAM:
Sot ka vlere te kufizuar
Rritet pas 6 – 8 oresh, arrin pikun per 24 ore, normalizohet per 5 dite
Ka vlere me te madhe per diagnozen hepatike (jospecifike po me sensitive se ALT)
ALT dhe AST ne semundje te ndryshme
Laktat dehidrogjenaze (LDH)
LDH katalizon oksidimin e kthyeshem te L-laktatit ne piruvat por mund te reagoje dhe me hidroksi e
keto acide te tjera si hidroksi butirati.
Gjendet ne perqendrime te larta ne qelizat e muskulit kardiak dhe skeletik, hepar, veshka, tru dhe
RBC.
Matja e aktivitetit plazmatik te LDH nuk eshte markues specifik i demtimit indor
LDH eshte tetramer dhe ka 5 izoenzima te formuara nga 2 lloje vargjesh H dhe M.
LDH1(H4), LDH2(H3M) – miokard, eritrocite
LDH3(H2M2), LDH4(HM3) – mushkeri, shpretke
LDH5(M4) – hepar, muskul skeletik
Izoenzima kardiake ka afinitet te larte per hidroksibutiratin, ndersa ajo hepatike reagon shume
ngadale me te; mund te percaktojme izoenzimen kardiake duke matur aktivitetin hidroksibutirat
dehidrogjenaze.
LDH – shtimi i aktivitetit plazmatik
artefakt (hemoliza e kampionit)
shtim akut i rendesishem (>5 here): shok cirkulator me hipoksi, infarkt miokardi, disa crregullime
hematologjike(anemi megaloblastike, leucemi akute, limfoma, talasemi, infarkt renal ose hedhje e
transplantit renal)
shtim i moderuar dhe i ngadalte: hepatit viral, semundje malinje, semundje muskulare, emboli
pulmonare, mononukleoze, medikamente
Izoenzimat – Shtimi i LDH1 dhe LDH2 eshte me i shprehur ne infarkt miokardi, anemi megaloblastike
dhe infarkt renal; Shtimi i LDH2 dhe LDH3 takohet ne leucemine akute; LDH3 eshte enzima kryesore
indikatore e semundjeve malinje; shtimi i LDH5 takohet ne demtime hepatike dhe muskulare
LDH dhe IAM
• LDH totale rritet 12 – 18 ore pas infarktit me pik ne 48 – 72 ore; kthehet ne normalitet pas 6
 – 10 ditesh
• Dozimi i izoenzimes LDH1 (H4) rrit specifitetin per indin kardiak; LDH1 eshte rreth 14 – 26% e
LDH totale te nje adult normal
• Per shkak te T1/2 se gjate, dozimi i LDH ka sensitivitet klinik te larte per infarktet qe
paraqiten pas 24 oresh.
• Nese CK MB ka vlera qe diagnostikojne IAM, nuk dozohen izoenzimat e LDH

Kreatine kinaza (CK) dhe Izoenzimat e saj ne IAM

CK – enzime citoplazmike dhe mitokondriale qe kthen kreatinen ne fosfokreatine (depo energjie per
muskulin)
CK gjendet me shumice ne qelizat kardiake, skeletike dhe te trurit
CK eshte nje dimer i perbere nga dy tipe vargjesh M dhe B, qe ka tre forma molekulare (izoenzima) te
ndryshme.
1. CK-MM (CK3) – izoenzima muskulare perben sasine me te madhe te CK
qarkulluese ne kushte normale
2. CK-MB (CK2) – izoenzima kardiake gjendet ne sasi rreth 6% te CK totale
3. CK-BB (CK1) – izoenzima e trurit; normalisht nen limitin e detektimit
Ne muskulin skeletik forma predominante eshte izoenzima CK-MM ose CK3; Ne muskulin skeletik
CK-MB ose CK2 ka vetem 1% aktivitet.
Ne muskulin kardiak CK-MM eshte perseri forma predominante por CK-MB eshte pergjegjese per
rreth 20% te aktivitetit total te enzimes
Izoenzima e trete CK-BB ose CK1 (gjendet ne tru) nuk perdoret si markues kardiak.
Meqenese CK gjendet ne te gjitha indet, shtimi i vecuar i saj nuk eshte specifik per demtimin
kardiak.
 Muskuli skeletik
 Muskuli kardiak
 Truri
 Muskulatura e lemuar e kolonit (zorra e trashe)
 Zorra e holle
 Uterusi
 Prostata
 Mushkeria
 Veshkat
Semundjet dhe situatat e tjera qe shkaktojne rritje te dukshme te CK totale
 Infarkti akut i miokardit
 Distrofia muskulare
 Injeksionet intramuskulare
 Shtatzania
  Ushtrimi i forte fizik
 Kirurgjia
 Trauma
 Miopatite
 Hypotiroza
 Semundjet tumorale te prostates, traktit gastrointestinal
Kreatine kinaza (CK) – shtimi i perqendrimit
artefakt – hemoliza
fiziologjik – neonat, pas lindjes, ne afrikanet me e larte
Shtim akut i shprehur: dermatomiosit dhe polimiosit, infarkt miokardi, distrofite muskulare,
rhabdomioliza dhe shoku cirkulator me hipoksi
shtim i moderuar dhe i ngadalte: demtime muskulare, infeksione, pas kirurgjise, ushtrimi fizik,
injeksionet intramuskulare, hypotiroze, alkolizmi, aksidentet cerebrovaskulare, medikamentet etj
Aplikimi kryesor diagnostik i CK eshte investigimi i semundjeve muskulare (izoenzima CK-MM) dhe
infarkti i miokardit ku predominon izoenzima CK-MB.
CK-MB dhe IAM
• Meqenese indi kardiak ka perqendrimin me te larte te CK MB kjo e fundit perdoret per te
monitoruar demtimet kardiake.
• Shtimi i CK MB mbi 10 ng/mL 6 – 48 ore pas fillimit te dhimbjes se gjoksit eshte indikator per
demtim kardiak.
• Meqenese CK MB gjendet dhe ne muskulin skeletik per rritjen e specifitetit te testit sot
perdoret indeksi i CK qe llogaritet me formulen
▫ CK MB < 10ng/mL dhe nje indeks < 2.5 konsiderohen normal
▫ CK MB > 10ng/mL dhe nje indeks > 2.5 sugjerojne demtim kardiak
▫ CK MB > 10ng/mL dhe nje indeks < 2.5 sugjerojne demtim te muskulit skeletik.
Mioglobina
Eshte proteine me peshe molekulare te vogel qe gjendet ne muskujt skeletike dhe kardiak. Ajo ka per
funksion transportin e oksigjenit ne muskul.
Meqenese ka peshe te vogel molekulare dhe lokalizim citoplazmik, mioglobina del shpejt ne plazem
pas demtimit.
Gjendet ne plazem dhe eliminohet shpejt ne urine.
Eshte me pak specifike se testet e tjera. Demtimet e muskulit skeletik ose demtimet renale mund te
japin rezultat fals pozitiv.

Mioglobina ne serum > 70ng/mL eshte nje indikator i hershem por jo specifik i infarktit. Nuk ka vlere
si test i vecuar.
Mioglobina ne IAM
Eshte test i hershem diagnostik me sensitivitet te larte (90 – 100%) dhe specifitet te ulet (60 – 95%)
Metodat e dozimit nuk percaktojne origjinen e indit te demtuar
Rritet 1 ore pas infarktit, arrin pikun per 4 – 12 ore. Ka vlere per diagnozen e IAM brenda 4 oreve te
para kur vlera e CK MB eshte ende normale
Ne pacientet qe paraqiten ne spital disa ore pas episodit te pare te dhimbjeve mioglobina dozohet
ne momentin e pranimit dhe pas 90 minutave.
Nese nga matja e pare ne te dyten rezulton nje rritje mbi 25% e perqendrimit, flasim per infarkt akut
miokardi. Megjithate duhet konfirmim me teste te tjera.
Troponinat
• Diagnoza e infarktit akut te miokadit mbeshtetet fuqimisht ne analizen e troponinave. Prej
markuesve qe disponohen sot, cTnI(troponina I) dhe cTnT(troponina T) ofrojne shkallen me
te larte te specifitetit kardiak.
• Troponina eshte nje kompleks proteinik rregullator i lokalizuar ne filamentin e holle te
aparatit kontraktil muskular dhe konsiston ne tre nennjesi (troponine T, troponine I dhe
troponine C) qe veprojne si rregullues te kontraktimit muskular.
• Troponina T lidhet me tropomiozinen
• Troponina I frenon miosin ATPazen
• Troponina C lidhet me jonet e kalciumit.
• Gjenden ne sasi te madhe ne indin kardiak TnT 10.8 mg/g, TnI 6.0 mg/g ndersa CK MB 1.4
mg/g
Troponinat ne IAM
Ndryshe nga markuesit e tjere kardiake, cTnI dhe cTnT kane izoforma te ndryshme ne muskulin
kardiak krahasuar me muskulin skeletik; izoformat jane specifike per demtimin kardiak.
Vec vleres ne detektimin e demtimit kardiak, troponinat kane dhe vlere prognostike. Keshtu, rritja e
skajshme e perqendrimit ne gjak te tyre flet per prognoze jo te mire te semundjes.
cTnI dhe cTnT shfaqen ne plazem zakonisht 4 – 8 ore pas shfaqjes se simptomave te infarktit akut te
miokardit. Rekomandohet dozimi i tyre te pakten 12 ore pas fillimit te dhimbjeve.
Troponinat – interferencat laboratorike dhe klinike
• Megjithese nuk jane markues te shpejte, kane vlere ne ndjekjen e ecurise se demtimit pasi
qendrojne te shtuara ne plazem te pakten 7 deri 10 dite.
• per cTnI, ne laboratore te ndryshme perdoren teste me ndjeshmeri te ndryshme diagnostike
dhe vlera referente te ndryshme. Ndersa per cTnT ka variabilitet me te vogel midis metodave
dhe laboratoreve.
• Vec infarktit akut te miokardit cTnT (me pak cTnI) mund te rritet dhe ne paciente me
semundje renale, dialize. Ne keta paciente nuk flet per infarkt miokardi por shoqerohet me
rrisk te larte per evenimente kardiovaskulare.
• Shtimi i perqendrimit te troponinave kardiake flet per pranine e demtimit te miokardit por jo
gjithnje per infarkt. Ato mund te rriten dhe nga faktore te tjere si semundja kongjestive
kardiake, miokardit, toksiciteti medikamentoz, nderhyrjet kirurgjikale ne zemer, embolia
 pulmonare etj.
Biomarkuesit e IAM - Permbledhje

Certainly! Here are the details you need to know about the pathology of myocardial infarction for
your biochemistry exam, listed, detailed, and classified:
1. Definition:
 Myocardial infarction (MI), also known as a heart attack, refers to the death of myocardial
(heart muscle) cells due to inadequate blood supply, usually caused by the occlusion of a
coronary artery.
2. Pathophysiology:
 Atherosclerosis: The most common underlying cause of myocardial infarction is
atherosclerosis, which involves the buildup of fatty plaques in the coronary arteries, leading
to their narrowing or complete blockage.
 Plaque Rupture: A vulnerable plaque within the coronary artery can rupture, leading to the
exposure of the plaque's lipid core and triggering the formation of a blood clot (thrombus) at
the site.
 Coronary Artery Occlusion: The blood clot formed at the site of plaque rupture can partially
or completely obstruct the coronary artery, leading to reduced blood flow to the
downstream myocardium.
 Ischemia: Reduced blood flow deprives the myocardium of oxygen and nutrients, resulting in
myocardial ischemia. The duration and severity of ischemia determine the extent of
myocardial damage.
 Infarction: Prolonged and severe ischemia leads to irreversible myocardial cell death
(infarction) in the affected area. Necrotic myocardial cells are replaced by scar tissue.
3. Classification:
 Transmural MI: In transmural (full-thickness) MI, the infarction involves the entire thickness
of the myocardium, extending from the endocardium to the epicardium. It is typically caused
by complete occlusion of a coronary artery.
 Subendocardial MI: Subendocardial (non-transmural) MI involves the innermost layer of the
myocardium, and the infarction does not extend through the full thickness of the
myocardium. It is usually caused by partial occlusion of a coronary artery.
4. Clinical Features:
 Chest Pain: Severe, crushing, and prolonged chest pain (angina pectoris) is a hallmark
symptom of myocardial infarction. It is often described as a tightness, pressure, or squeezing
sensation in the chest, which may radiate to the left arm, neck, jaw, or back.
 Shortness of Breath: Difficulty breathing or shortness of breath (dyspnea) may occur due to
reduced cardiac output and pulmonary congestion.
 Diaphoresis: Profuse sweating, often accompanied by a feeling of impending doom, can be
observed.
 Nausea and Vomiting: Some individuals may experience nausea, vomiting, or indigestion-like
symptoms during a myocardial infarction.
5. Diagnosis:
 Electrocardiogram (ECG): ECG is the primary diagnostic tool used to assess for myocardial
infarction. It can show characteristic changes, such as ST-segment elevation (STEMI) or ST-
segment depression and T-wave inversion (non-STEMI).
 Cardiac Biomarkers: Blood tests for cardiac biomarkers, such as troponin, creatine kinase-MB
(CK-MB), and myoglobin, are used to confirm myocardial cell death and assess the extent of
myocardial damage.
6. Treatment:
 Reperfusion Therapy: The immediate goal of treatment is to restore blood flow to the
affected myocardium. Reperfusion therapy can be achieved through either thrombolytic
 therapy (to dissolve the blood clot) or percutaneous coronary intervention (PCI) with
angioplasty and stent placement.
 Medications: Patients may be prescribed medications such as antiplatelet agents,
anticoagulants, beta-blockers, Medications (continued): Patients may also be prescribed
medications such as nitroglycerin (to relieve chest pain), angiotensin-converting enzyme
(ACE) inhibitors or angiotensin receptor blockers (ARBs) (to reduce cardiac workload and
improve outcomes), beta-blockers (to reduce heart rate and blood pressure), and statins (to
lower cholesterol levels and prevent future events).
 Cardiac Rehabilitation: Following the acute phase of myocardial infarction, cardiac
rehabilitation programs are recommended. These programs include supervised exercise,
lifestyle modification, education, and counseling to improve overall cardiovascular health
and reduce the risk of future events.
 Secondary Prevention: Long-term management of myocardial infarction focuses on
secondary prevention strategies, including lifestyle modifications (e.g., smoking cessation,
healthy diet, regular exercise), medications for blood pressure and cholesterol control, and
regular medical follow-up.
 Complications: Myocardial infarction can lead to several complications, including:
 Heart Failure: Damage to the heart muscle can impair its ability to pump blood effectively,
leading to heart failure.
 Arrhythmias: Disturbances in the heart's electrical conduction system can result in various
arrhythmias, including ventricular fibrillation, which can be life-threatening.
 Cardiogenic Shock: Severe damage to the heart muscle can cause a significant drop in
cardiac output, leading to cardiogenic shock, a life-threatening condition requiring
immediate medical intervention.
 Ventricular Aneurysm: In some cases, a weakened area of the ventricular wall may bulge out
and form a ventricular aneurysm, increasing the risk of thrombus formation and
arrhythmias.
 Pericarditis: Inflammation of the pericardium, the protective sac surrounding the heart, can
occur as a complication of myocardial infarction.

Certainly! Here are the details you need to know about cardiac markers for your biochemistry exam,
listed, detailed, and classified:
1. Troponin:
 Troponin I and troponin T are specific markers for cardiac muscle damage.
 Troponin levels rise within 4-6 hours after the onset of myocardial injury, peak at 12-24
hours, and remain elevated for several days.
 Troponin is the most sensitive and specific cardiac marker for diagnosing myocardial
 infarction.
 It helps differentiate between unstable angina (where troponin is not elevated) and
myocardial infarction (where troponin is elevated).
2. Creatine Kinase-MB (CK-MB):
 CK-MB is an enzyme found predominantly in cardiac muscle.
 CK-MB levels rise within 4-6 hours after the onset of myocardial injury, peak at 12-24 hours,
and return to baseline within 48-72 hours.
 It is used as an early marker of myocardial damage but is less specific than troponin.
 CK-MB is also used to assess the extent of myocardial injury and guide reperfusion therapy.
3. Myoglobin:
 Myoglobin is an oxygen-binding protein found in cardiac and skeletal muscle.
 Myoglobin levels rise rapidly within 1-2 hours after the onset of myocardial injury, peak at 4-
8 hours, and return to baseline within 24-36 hours.
 It is less specific than troponin and CK-MB but is useful as an early marker of myocardial
damage.
 Myoglobin levels can be influenced by skeletal muscle injury or renal dysfunction.
Classification: Cardiac markers can be classified based on their timing of release and diagnostic
utility:
1. Early markers:
 Myoglobin: Rapid rise within hours after myocardial injury.
 CK-MB: Rises within 4-6 hours and peaks at 12-24 hours.
2. Late markers:
 Troponin: Rises within 4-6 hours, peaks at 12-24 hours, and remains elevated for several
days.
 Troponin I and troponin T are the most specific markers for myocardial injury.
3. Diagnostic utility:
 Troponin: Highly sensitive and specific for diagnosing myocardial infarction.
 CK-MB: Less specific but used for early detection and assessing the extent of myocardial
injury.
 Myoglobin: Less specific but used as an early marker of myocardial damage.

Kontrolli endokrin, testet dinamike funksionale. Funksioni i hipofizes.

Crregullimet e rritjes dhe akromegalia.

Kontrolli endokrin
Kontrolli endokrin arrihet permes rregullatoreve biokimike: hormonet, faktoret parakrine dhe
faktoret autokrine. Hormonet sintetizohen ne gjendra te specializuara dhe clirohen ne
gjak, per te ndikuar ne aktivitetin e qelizave dhe indeve ne distance. Faktoret parakrine
nuk sekretohen ne gjak por veprojne tek qelizat ne afersi te tyre, ndersa faktoret autokrine e
ushtrojne veprimin pikerisht tek qelizat qe i sintetizojne keta faktore. Ne varesi te struktures
molekulare, hormonet klasifikohen ne tri klasa: peptide ose proteina ku perfshihet shumica e
hormoneve, derivate te aminoacideve dhe steroide.

 Vleresimi i kontrollit endokrin paraqet veshtiresi te vecanta si pasoje e karakteristikave te

meposhtme:
-Perqendrimet e uleta te hormoneve ne gjak. Sasia e ulet e hormoneve ne gjak,shpesh nen
kufirin e poshtem te zbulimit analitik ka cuar drejt persosjes se testeve imunologjike, te cilet
po ashtu perballen me sfida te specifitetit per shkak te ngjashmerise strukurore ndermjet disa
hormoneve.
-Variabiliteti. Perqendrimi i hormoneve mund te ndryshoje per shkaqe te ndryshme sic eshte
sekretimi pulsativ i hormonit te rritjes apo ritmi cirkadian i kortizolit.
-Lidhja e hormoneve. Hormone te ndryshem qarkullojne ne plazem te lidhur me proteina
specifike, nderkohe qe biologjikisht aktiv eshte fraksioni i lire/i palidhur i hormonit.

Ndryshimet ne perqendrimin e proteinave lidhese mund te ndikojne ne perqendrimin e

hormonit duke cuar ne keqinterpretim te rezultateve.
Dy jane llojet klasike te kontrollit endokrin: fidbeku negativ dhe pozitiv.
Fidbeku negativ mund te ilustrohet permes boshtit hipotalamus-hipofize-tiroide.
Perqendrimi i larte i hormonit tiroidien T4 ushtron kontroll negativ mbi hipotalamus duke
ulur prodhimin e TRH (hormoni clirues i tirotrofines), mbi hipofize duke ulur sintezen e TSH
(hormoni tireostimulues) dhe mbi vete gjendren tiroide. Ky eshte modeli me i perhapur i
fidbekut ne kontrollin endokrin.
Fidbeku pozitiv eshte i pranishem gjate ciklit menstrual. Megjithese boshti hipotalamik-
hipofizar-ovarian vepron normalisht si qark me fikbek negativ,rreth mesit te ciklit
estrogjeni vepron me fidbek pozitiv mbi Hormonin Luteinizues duk cuar ne ovulacion.

Interpretimi i rezultateve nga matjet hormonale veshtiresohet per shkak te:

1. Interferenca ne testet imunologjike. Rreth 40% e individeve mund te kene te pranishem
antitrupa specifike qe interferojne ne testet imunologjike.
2.Reagimet logaritmike-lineare. Te gjitha trofinat qe prodhohen ne hipofizen anteriore rriten
ne menyre eksponenciale ne pergjigje te shtimit te hormoni clirues.

Testet dinamike funksionale

Testet dinamike te funksionit perfshijne nxitjen ose frenimin e nje boshti te caktuar
hormonal dhe vrojtimin e pergjigjes hormonale.
Nese dyshohet per deficit te nje hormoni te caktuar, realizohet testi i stimulimit,
ndersa ne rastet kur dyshohet tepria e nje hormoni perdoren testet e frenimit.

Testi IST/Testi i tolerances ndaj insulines perdoret ne rastet kur dyshohet per
hipopituitarizem.
 Administrohet insuline per te shkaktuar stres hipoglicemik dhe me tej
vleresohet aftesia e hipofizes per te prodhuar ACTH dhe GH.
Kulmi i GH mbi 20mU/L konsiderohet normal ndersa ne vend te ACTH matet kortizoli i
cili per t’u konsideruar adekuat duhet te jete mbi 500 nmol/L.

Testi TRH perdoret kur dyshohet prania e semundjeve hipotalamike dhe me rralle per
hiper/hipotiroidizmin.
TRH jepet si doze intravenoze dhe ne minuten 0,20 dhe 60
matet perqendrimi i TSH dhe Prolaktines

Testi GnRH perdoret kur ka te dhena klinike ose biokimike per hipogonadizeem.
Mund te kryhet i vetem ose i kombinuar me dy testet e mesiperme per te hulumtuar
funksionin e hipofizes anteriore.
Tek te rriturit normale GnRH shkakton nje rritje te madhe te LH dhe me pak te FSH.

Testi i tolerances ndaj glukozes orale me matje te GH perdoret ne rastet qe dyshohen per
akromegali.
Tek adultet e shendetshem hiperglicemia e shkaktuar gjate testit frenon GH ne
nivele<2mU/L, nderkohe qe tek pacientet akromegalike ky frenim nuk ndodh.

Testi i shkurter me Synachten SST perdoret per diagnostikimin ose perjashtimin e

insuficences adrenale.
 Realizohet duke dozuar kortizolin ne gjak ne minuten 0 dhe 30 pas administrimit te
250µg synachten (analog sintetik i ACTH)
Testi i gjate me Synachten LST perdoret kur pergjigja e SST eshte e dyshimte dhe per te
percaktuar nese pamjaftueshmeria adrenale eshte paresore apo dytesore.
Administrohet intramuskul depo-synachten 1mg per tri dite dhe ne te katerten perseritet
SST

Testi i supresionit me doze te ulet Deksametazoni perdoret per zbulimin e hiperaktivitetit

te boshtit hipotalamik-hipofizar-adrenal.
Realizohet duke matur kortizolin ne gjak pas administrimit nje nate me pare te 1 mg
deksametazoni per os.
Pergjigja normale eshte ulja e kortizolit <50nmol/L.

Testi i supesionit me doze te larte Deksametazoni perdoret ne mungese te frenimit te kortizolit

me doze te ulet deksametazoni qe mund te ndodhe prej Semundjes Cushing dhe
prodhimiit ektopik te ACTH.
Testi me 8mg Deksametazon mundeson dallimin midis ketyre dy mundesive.

Funksioni i hipofizes
Funksioni i hipofizes rregullohet nga hipotalamusi.
Hipofiza anteriore sintetizon hormonin tireostimulues TSH qe nxit sintezen e hormoneve
tiroidiene,
 hormonin adrenokortikotrop ACTH qe nxit sintezen e kortizolit nga korteksi adrenal, LH
dhe FSH qe stimulojne sintezen e hormoneve seksuale nga gonadet, GH qe vepron mbi
shume inde duke rregulluar metabolizmin dhe
Prolaktinen pergjegjese per kontrollin e prodhimit te qumeshtit nga gjendrat e gjirit.

Hipofiza posteriore eshte nje teresi mbaresash te specializuara te fijeve nervore me fillim ne
hipotalamus qe sherben per depozitimin e hormonit antidiuretik/arginine-vazopresina
dhe oksitocines te sintetizuar ne neuronet hipotalamike.
Sekretimi i hormonit antidiuretik ADH stimulohet nga osmolaliteti i larte i plazmes, renia e
vellimit te gjakut dhe stresi.
Oksitocina sekretohet ne pergjigje te thithjes se gjirit dhe kontraksioneve te mitres ne
fillimin e lindjes.

Tumoret e hipofizes
Tumoret e hipofizes mund te jene funksionale (sekretojne hormone) ose jofunksionale.
Efektet mund te jene lokale: dhimbja e kokes, edema e papiles, defektet ne fushen pamore
dhe specifike si pasoje e teprices se hormonit.
 Ndikimi i tumorit ne funksionin e hipofizes hulumtohet permes testeve dinamike
funksionale.
 Trajtimi mund te jete medikamentoz si psh. barnat agoniste te dopamines ne trajtimin e
hiperprolaktinemise kur shkaktohet nga mikroprolaktinomat ose si terapi preoperatore per
te reduktuar permasat e prolaktinomes, kirurgjikal permes hipofizektomise sfenoidale dhe
rrezatues qe duhet te pasohet nga vleresim i perseritur i rezerves se hipofizes anteriore
permes testeve dinamike te funksionit.

Hipopituitarizmi
Tumoret, infarkti, trauma, keqformimet e lindura, infeksionet dhe crregullimi hipotalamik
 jane disa nga shkaqet e hipopituitarizmit. Shfaqjet klinike jane ne varesi te moshes. Tek
foshnjat verehet gjatesi e shkurter dhe zhvillim i prapambetur, ne vitet e riprodhimit
verehet amenorre, libido e ulur dhe subfertilitet ndersa tek pacientet me moshe me te
madhe verehen simptoma qe lidhen me mungesen ACTH ose TSH.

Crregullimet e rritjes dhe akromegalia

Hormone te shumta perfshihen ne rritjen e femijes:
GH, IGFs, tiroksina, kortizoli, steroidet seksuale dhe insulina.
 Femijet gjatesia e te cileve eshte nen percentilin e trete te grafikut standard kerkojne
hulumtim te metejshem.
 Pamjaftueshmeria e hormonit te rritjes eshte nje shkak i rralle i rritjes se
pamjaftueshme fizike dhe duhen pasur ne konsiderate shkaktaret e tjere te
shtatshkurtesise si psh shtati i shkurter i prinderve, achondroplasia, semundjet
sistemike kronike, faktoret psikologjike dhe crregullimet e tjera hormonale.
Mungesa e GH mund te jete e pranishme qe ne lindje ose si pasoje e insuficences se
mevonshme te hipofizes.
Mungesa e reagimit te GH-se ndaj stresit nga ushtrimi ose klonidina eshte diagnostikuese.

Reagimi i GH-se ndaj stimujve kerkon pranine e steroideve seksuale ndaj duhet
paraprakisht te jepen testosteron ose estrogjen tek femijet para pubertetit dhe tek adultet
hipogonadale. Perdoren gjithashtu matja e GH ne urine dhe dozimet serike te IGF; nivelet
brenda intervaleve te references perjashtojne mungesen e GH.

Teprica e GH tek femijet eshte e rralle dhe karakterizohet nga rritja e shpejte lineare
(gjigantizmi). Shkaktare te tjere te gjatesise te madhe tek femijet jane hipertiroidizmi,
crregullimet e trasheguara si sindroma Klinefelter oe hiperplazia e lindur adrenale CAH.

Akromegalia
Sekretimi i shtuar i GH pas mbylljes se epifizave kockore shkakton akromegali: fytyra me
tipare te ashpra,trashje e indeve te buta, prognatizem, zmadhim te duarve dhe
kembeve, djersitje, tolerance e demtuar ndaj glukozes.
 Shkaktari me i shpeshte eshte adenoma e hipofizes.
 Diagnoza kerkon realizmin e testit te tolerances ndaj glukozes me matje te GH.
 IGF prodhohet ne pergjigje te GH ndaj dozimi i IGF jep te dhena te dobishme per
diagnozen dhe monitorimin e akromegalise se trajtuar.
Trajtimi eshte: kirurgjikal suksesi i te cilit varet nga madhesia e tumorit; rrezatues i rezervuar
per pacientet qe nuk i pergjigjen mire kirurgjise dhe medikamentoz me agoniste te dopamines
dhe analoge sintetike te somatostatines.
FUNKSIONI GONADAL: Gonadet
Testosteron male hormone
corpus luteum progresteron secreted when
corpus luteum is formed after ovulation
Female plasma contains testosteron half of which
comes from the ovary and half from peripheral
conversion of androstenedione and DHA
male plasma very low concetrations of estrogjene
Testosteron/ estrogjenet plazme lidhen me SHBP
(sex hormone binding protein)
estrogjenet stimulojne sinteze te SHBP dhe
testosteroni frenon
SHBP perq tek femrat>2 x perq SHBP tek meshkujt
SHBP ka afinitet me te madh per testosteronin se
estrogjenet
 SHBP rritje te efekteve te estrogjenit
 SHBP rritje te efekteve te androgjeneve
Hypogonadism:
Primar ose HYPERGONADOTROPHIC HYPOGONADISM
Sekondar ose HYPOGONADOTROPHIC
HYPOGONADISM
Primar defekte kongenitale( klinefelter/ agenez
testikulare) + fituar (infeksione testikulare + trauma +
droga cytotoksike
Sekondartumore te hipofizes + crreg hipotalamike si
KALLMANN
Al the beginning of the cycle, FSH is released and
initiate follicular growth.
At mid-cycle a surge of LH triggers ovulation.
rupture folikulitcorpus luteum progresteron dhe
estradiolendometrin e pergatisin per implantim
• Organe te riprodhimit
• Prodhojne hormone dhe qelizat riprodhuese
• Qelizat riprodhuese quhen gameta
– Spermatozoid – Ovocit
Gonadet mashkullore
• Funksioni kryesor – prodhimi i gametave (riprodhim) dhe rregullimi i karakteristikave seksuale
sekondare
• Zhvillimi embrional
– Gonadet primitive (para javes 6)
– Diferencimi ne testikuj (pas javes 8, kontrollohet nga kromozomi Y)
– Diferencohen qelizat Leyding dhe Sertoli
• Q. Leyding sekretojne nje glikoproteine qe frenon zhvillimin e duktusit Mullerian
• Q. Sertoli sekretojne testosteron qe nxit zhvillimin e duktusit Wolfian
– Maskulinizimi i organeve te jashtme nen veprimin e androgjeneve fillon rreth javes 14 –
Ne mungese te kromozomit Y gonadet primitive zhvillohen si ovare
• Testikujt – Tubuj seminifere (prodhojne sperme) – Q. Leyding (prodhojne hormonet androgjene)
• Sperma permban: – Spermatozoide (20 – 100 million/mL) – Likidin seminal – Enzima
• Spermograma – analiza laboratorike e spermes – Volumi 1,5 – 5 mL – pH >7,2 – Koncentrimi,
motiliteti, morfologjia e spermatozoideve – Aglutinimi dhe viskoziteti
Hormonet testikulare
• Testosteroni – Prodhohet ne qelizat Leyding nga kolesteroli – Sinteza nxitet nga LH – 95% qarkullon
i lidhur me proteinat – Ne organet shenje transformohet ne 5 -dihidrotestosteron – Ne periferi (ind
dhjamor) transformohet ne estradiol (obezet) – Inaktivizohet ne hepar – kthehet ne 17
hidroksisteroide qe ekskretohen ne urine te sulfuruara ose te glukuronuara
• Inhibina – Hormon peptidik – Frenon sekretimin e FSH nga hipofiza
Kontrolli hipotalamohipofizar i funksionit testikular:
• GnRH sekretohet nga hipotalamusi ne menyre pulsuese dhe nxit sintezen hipofizare te FSH dhe LH
• LH nxit sintezen testikulare te testosteronit; ky i fundit vepron me mekanizem feedback negativ
mbi sekretimin hipofizar te FSH dhe LH
• FSH stimulon spermatogjenezen
• Funksioni testikular frenohet ne hiperprolaktinemi
Crregullimet e funksionit gonadal mashkullor
Zhvillimi i parakohshem seksual (rreth moshes 9 vjec) shkaktohet nga shtimi i prodhimit te
androgjeneve.
– Sindroma te pavarura nga gonadotropinat
• Tumore ose hiperplazi e qelizave Leydig
• Hiperplazi adrenale kongenitale
• Tumore adrenale
• Marrje e androgjeneve (terapi)
– Sindroma te varura nga gonadotropinat
• Idiopatike
• Tumore qe sekretojne hCG
• Patologji te sistemit nervor qendror si tumoret, infeksionet apo demtimet traumatike.

Crregullimet e funksionit gonadal mashkullor

Hypogonadizmi
• Primar – Crregullime kongenitale (semundjet kromozomale, defektet e trasheguara ne sintezen e
androgjeneve) – Demtime testikulare te fituara (p.sh. orchiti viral, trauma, radiacioni, medikamentet
citotoksike,alkoli) – Semundje sistemike qe prekin funksionin testikular ( si demtime te heparit,
veshkave, semundje neurologjike, drepanocitoza)
• Sekondar – Semundje hipotalamo-hipofizare (panhipopituitarizmi, deficiti i gonadotropinave,
hiperprolaktinemia) – Semundje te tjera endokrine (sindromi Cushing) Crregullimet e funksionit
gonadal mashkullor Sindromet feminizues tek meshkujt – nga gjinekomastia tek
pseudohermafrodizmi)
• Fiziologjike (ne periudhen neonatale, pubertet, pleqeri)
• Defekte ne prodhimin e androgjeneve (ne demtime te trasheguara te sintezes se testosteronit ose
defekte te veprimit te androgjeneve)
• Shtimi i prodhimit te estrogjeneve (ne tumoret qe sekretojne hCG, tumoret testikulare apo si
rezultat i shtimit te substratit ne semundjet adrenale ose hepatike)
• Medikamentet (perfshi estrogjenet, frenuesit e sintezes se testosteronit si citotoksiket dhe
medikamente te tjere qe veprojne me mekanizem akoma te paqarte si antidepresivet triciklike,
drogat etj).
Shkaqet e infertilitetit mashkullor
Rreth 15-40% e meshkujve infertile nuk paraqesin nje shkak te identifikueshem (infertilitet idiopatik).
Shkaqet e infertilitetit mund t’i klasifikojme ne:
Shkaqe hipotalamike • Deficiti i izoluar i gonadotropinave sporadik ose familiar (sindromi Kallmann)
• Deficiti i izoluar i LH (eunuk fertil) • Deficiti i izoluar i FSH • Sindromet hipogonadotrope
kongenitale (Prader-Willi, Laurence-Moon-Biedel). • Stresi, problemet socioekonomike.

Shkaqe hipofizare • Insuficienca hipofizare (tumore, procese infiltrative, heqje kirurgjikale, rrezatimi)
• Hemokromatoza • Hiperprolaktinemia • Interferencat e hormoneve johipofizare me funksionin
hipofizar (shtimi ne qarkullim i hormoneve estrogjene-androgjene, i glukokortikoideve, disfunksioni i
gjendres tiroide i shprehur si hipo ose hipertiroze

Shkaqe testikulare
• Anomali kromozomike (Sindromi Klinefelter, semundja XX, sindromi XYY), sindromi Noonan,
miotonia distrofike.
• Anorkia bilaterale
• Aplazia e qelizes germinale
• Gonadotoksinat (ambientale, radiacioni, medikamente)
• Orkiti
• Traumat
• Semundjet sistemike (insuficienca renale, semundjet hepatike, drepanocitoza)
• Defektet ne sintezen ose veprimin e androgjeneve
• Kriptokirdizmi (ka incidence 0,8% tek meshkujt por shoqerohet me reduktim te fertilitetit)
• Varikocele sekondare; rezulton nga pamjaftueshmeria ose mungesa e valvoles se venes
spermatike.

Shkaqe post testikulare

• Crregullime ne transportin e spermes (kongenitale si atrezia ose mungesa e porcioneve te sistemit
duktal, e fituar si infeksionet bakterike apo interventet kirurgjikale dhe funksionale sin e rastin e
neuropative sekondare pas interventeve kirurgjikale retroperitoneale). • Crregullimet e motilitetit
ose funksionit te sperms • Crregullime ne fuzionin spermatozoid-ovocit • Disfunksionet seksuale

Testet biokimike per vleresimin e funksionit gonadal mashkullor

Testosteroni (T) ne serum • Sekretimi i testosteronit ne serum eshte pulsues cdo 60-90 minuta. •
Niveli normal i testosteronit tek adulti mashkull llogaritet 9- 28nmol/l. • 65% e T qarkullon i lidhur
me SHBG (sex-hormone-bindingglobulin), ndersa 30% e tij qarkullon i lidhur me albuminen. • 2%
llogaritet fraksioni i lire i T (250-750pmol/l). Eshte ky fraksion, fraksioni aktiv i testosteronit
qarkullues. • Nivelet e testosteronit total jane te ndjeshme ndaj perqendrimit te SHBG dhe duhen
korrigjuar kundrejt saj. • Per te percaktuar sakte perqendrimin e testosteronit te lire behet raporti i
testosteronit me SHBG. • Dozimi i dihidrotestosteronit

SHBG – shtimi i SHBG ne te dy sekset shoqerohet me shtim te efekteve estrogjenike

– ulja e SHBG shoqerohet me shtim te efekteve androgjenike
Gonadotropinat ne serum – LH dhe T - demtim hipotalamohipofizar –
LH dhe T - demtim primar testikular –
FSH (e izoluar) – dyshojme demtime te epitelit germinal

Prolaktina – Hiperprolaktinemia ul ritmin e spermatogjenezes

 Estrogjenet ne serum E2 (estradioli) rritet nga:
– shtimi i sintezes (tumor testikular, semundje adrenale)
– ulje metabolizmi (semundje hepatike)
– shtim i kthimit te androgjeneve ne estrogjene (OBEZ)
 Testi i stimulimit me clomiphene
 • Klomifeni eshte preparat antiestrogjenik qe interferon me “feedback-“ ne hipofize duke
cuar ne shtim te sekretimit te FSH dhe LH
• Mospergjigja flet per hipogonadizem hipotalamo-hipofizar Testi me GnRH
• Diferencon demtimet hipotalamike nga ato hipofizare
• Pas administrimit te 100μg Gn-RH sekrecioni i gonadotropinave shtohet nese demtimi
eshte i lokalizuar ne hipotalamus.
• Perqendrimi i ganadotropinave serike nuk ndryshon pas stimulimit nese defekti lokalizohet
ne hipofize.
 Testi i stimulimit me hCG
• Gonadotropina korionike humane (hCG) stimulon qelizat Leydig dhe con ne shtim te
sekretimit testikular te testosteronit.
• Mungesa e pergjigjes pas injektimit te hCG flet per demtim primar testikular
• Pergjigja pozitive (shtim i perqendrimit te T ne gjak), flet per demtim hipotalamo - hipofizar
 • Meqenese lista e shkaqeve te infertilitetit mashkullor eshte mjaft e gjere,nje seri e tere
ekzaminimesh laboratorike specifike ose jo mund te kontribuojne per identifikimin dhe
kurimin e nje situate te tille.
 • Krahas testeve laboratorike nje vend te rendesishem ze anamneza, vleresimi i
crregullimeve seksuale, ekzaminimi i kujdesshem objektiv i pacientit si dhe ekzaminimet
ekografike dhe radiologjike te kokes, gjendres mbiveshkore, tiroides, testikujve
 . • Ne testet e tjera laboratorike mund te rendisim: - Spermogramen - Biopsine testikulare -
Dozimin e hCG dhe AFP (alfafetoproteines) kur dyshohet ose per te ndjekur ecurine e
tumoreve testikulare. - Testet qe studiojne metabolizmin e hekurit kur dyshohet per
hemokromatoze - Dozimi i hormoneve mbiveshkore - Analiza kromozomale - Studimi i
receptoreve androgjenike ne kulturat fibroblastike kur dyshohet per rezistence ndaj
androgjeneve (LH↑, T ↑ose normal, estradiol↑).

Funksioni gonadal femeror

• Ovari prodhon – Gametet (riprodhim) – Hormonet qe kontrollojne karakteristikat seksuale
sekondare
• Sinteza e estrogjeneve fillon rreth javes se 6 te jetes intrauterine
• Folikulat ovariale zhvillohen rreth javes se 12
• Nese nuk sekretohet faktor frenues, sistemi i duktusit Müllerian diferencohet per te formuar tubat
e Fallopit, uterusin dhe 1/3 e siperme te vagines
• Organet e jashtme genitale femerore zhvillohen ne mungese te kromozomit Y.

Hormonet ovariale • Hormonet steroide ovariale sintetizohen nga kolesteroli – Estrogjenet –

Progesteroni • Ovari prodhon dhe: – Hormonet peptidike (relaksina dhe inhibina)
Estrogjenet • Dy estrogjenet kryesore qe prodhohen jane: – Estradioli (E2 ) – Estroni (E1 ).
• E2 eshte estrogjeni me i fuqishem.
• Ne grate ne ovulacion rreth 60% e estrogjeneve e perben E2 i prodhuar nga ovaret. Pjesa tjeter
perbehet nga E1 i sintetizuar kryesisht ne indet periferike (p.sh. indin dhjamor) prej aromatizimit te
Androstenedionit.
• Sinteza periferike eshte mekanizmi kryesor qe prodhon E1 ne grate ne menopause.
•Gonadotropinat hipofizare luajne nje rol te rendesishem ne prodhimin ovarial te estrogjeneve.
LH nxit fazat e para te steroidogjenezes, ndersa FSH nxit fazat finale te sintezes se estrogjeneve.
• Estrogjenet nxisin tek femra, zhvillimin e shenjave seksuale sekondare.
• Estrogjeni urinar kryesor eshte Estrioli (E3 ) i cili prodhohet nga metabolizmi i E2 dhe E1 .

Progesteroni • eshte nje hormon steroid qe prodhohet kryesisht ne corpus luteum. • indukton
aktivitetin sekretor dhe ndryshimet e endometrit duke pergatitur uterusin per implantimin e vezes
pas fertilizimit. • Fertilizimi eshte nje situate gjate se ciles sekretimi i progesteronit ruhet. Ky
sekretim frenon ovulacionin dhe ndihmon ne zhvillimin e gjirit. • Progesteroni rrit temperaturen e
trupit. Hormonet peptidike • Relaxin: sekretohet gjate barres dhe lehteson lindjen e fetusit (vepron
mbi ligamentet) • Inhibine: qe frenon sekretimin e FSH Androgjenet • Ne ovar, kryesisht ne qelizat e
thekes sintetizohen disa androgjene: dehydroepiandrostenedioni, testosterone dhe
androstenedioni. • Androstenedioni prodhohet dhe nga gjendra adrenale. Ai konvertohet ne indet
periferike (kryesisht ne indin dhjamor) ne testosteron dhe estron. Nje sasi e vogel testosteroni
prodhohet dhe sekretohet direkt nga gjendra adrenale e cila sekreton gjithashtu dhe androgjene te
tjere si dehidroepiandrosteroni dhe forma sulfate e tij.

Menopauza • Ne menopauze ovari i pergjigjet me pak gonadotropinave. Folikujt pakesohen deri ne

mbarim. • Sekretimi i estrogjeneve bie duke reduktuar dhe kontrollin feedback negativ mbi
gonadotropinat. • Kjo situate shoqerohet me rritje te niveleve qarkulluese te FSH dhe LH ne fillim te
menopauzes. • Ndryshimet hormonale cojne ne instabilitet vasomotor (afshet), atrofi te epitelit te
aparatit urogenital, shtim te riskut per osteoporoze etj.

Crregullimet e funksionit gonadal femeror

Puberteti i parakohshem
• i vertete; krahas zhvillimit te hershem te karakteristikave seksuale sekondare, shfaqet dhe cikli
ovulator menstrual.
• pseudopubertet i parakohshem; nuk kemi cikel menstrual. Shumica e rasteve jane idiopatike.
• Ne rreth 10% te rasteve, shkak per pubertet te parakohshem jane tumoret ose infeksionet e trurit.
Pseudopuberteti i parakohshem shpesh ka si shkak tumoret ose kistet ovariale.

Amenorrhea
• primare kur menstruacionet nuk shfaqen asnjehere
• sekondare kur kemi te bejme me nderprerje te ciklit menstrual.
– Nderprerja mund te jete e plote (Amenorrhea)
 – Nderprerja mund te jete e pjesshme (Oligomenorrhea, cikel menstrual jofrekuent, i crregullt dhe
me sasi te paket).
• Shkaqet: Amenorrhea e shoqeruar me mungese te karakteristikave seksuale sekondare mund te
jete pasoje e: – Agenezise se gonadeve – Sindromit Terner – Hiperplazise adrenale kongenitale –
Hipogonadizmit hypogonadotropik(sindromi Kallman) – Demtimeve te sistemit nervor qendror( p.sh.
kraniofaringeoma)

Amenorrhea - shkaqet Amenorrhea ne prani te karakteristikave seksuale sekondare mund te jete

pasoje e: – Anomalive anatomike – Crregullimeve primare te gonadeve (si p.sh. feminizimi testicular,
“plakja” e parakohshme e ovarit, sindromi i ovarit polikistik, tumoret ovariale).
Crregullimet hipotalamo-hipofizare qe mund te shoqerohen me amenorrhea: – Stresi – Anoreksia
nervore – Ushtrimi fizik ekstrem – Semundjet sistemike

• Hirsutizem: shtimi i pilozitetit me karakteristika mashkullore.

• Virilizimi ose maskulinizimi: sindrom ku piloziteti mashkullor shoqerohet dhe me trashjen e zerit,
zhvillimin e muskulatures etj.
• Ne vleresimin e ketyre sindromeve duhen marre parasysh dhe faktoret gjenetike.
• Nje nga shkaqet me te zakonshme te hirsutizmit eshte sindromi i ovarit polikistik (pacientet mund
te kene cikel normal). Shkaqe te tjera mund te jene hiperplazia adrenale kongenitale, sindroma
Cushing, tumoret qe prodhojne androgjene.
• Shumica e grave me hirsutizem kane shtim te androgjeneve ne qarkullim.
• LH i shtuar sugjeron per ovar polikistik, ndersa shtimi i 17 hidroksi progesteronit sugjeron
hiperplazi adrenale kongenitale.
• Nivelet shume te larta te testosteronit ne serum dhe shtimi i dihidroepiandrosteron sulfatit
sugjerojne shkaqe neoplazike te sindromave virilizuese.

Infertiliteti femeror
- shkaqet Hipotalamike - Stresi - Humbja ne peshe - Anoreksia nervore - Deprivimi emotive Hipofizare
- Insuficienca hipofizare (tumore, procese infiltrative, operacione dhe rradiacione)
- Hiperprolaktinemia (shkakton anovulacion kronik pasi prolaktina e larte alteron sekretimin pulsues
te LHRH)
- Hipotiroidizmi( shoqerohet me anovulacion kronik)
Ovariale - Anomalite kromozomike - Sindromi i ovarit polikistik - Insuficienca ovarike e parakohshme
(me origjine gjenetike ose autoimmune) - Alterimet folikulare (p.sh. sindromi i folikulit “te
pashperthyer”, folikuli “bosh”, retensioni i ovocitit) - Sekretimi i shtuar androgjen ne pergjigje te
rezistences ndaj insulines (sindrom metabolik)

Infertiliteti femeror
- shkaqet Patologji tubulare
- Salpingitet
- Semundjet inflamatore pelvike
- Infeksionet puerperale
- Apendisiti supurues
- Peritoniti i lidhur me shkaqe te tjera

Endometrioza - Endometrioza percaktohet si prania dhe proliferimi i indit endometrial jashte

kavitetit endometrial.
Patologji uterine - Cervicitet - Stenoza postkirurgjikale - Crregullimet funksionale te qafes (prodhim
anormal i mukusit, izoimuniteti cervical local etj.)
 Anomalite kongenitale dhe hipoperfuzioni i trupit te uterusit - Lezionet e miometrit -
Insuficienca endometriale
 Testet e vleresimit te funksionit gonadal femeror
• Gonadotropinat ne serum FSH, LH
• Estrogjenet: Estradiol (ne menopauze Estron)
• Progesteroni
• Androgenet (testosteron, DHEAS, androstenedion)
• Prolaktina
• Dozimet hormonale kryhen duke respektuar fluktuacionet e ciklit menstrual; nje dozim i
vetem eshte i pamjaftueshem
• Prolaktina dhe testosteroni nuk ndryshojne gjate ciklit menstrual; kur dozohen te vecuar
nuk ka rendesi momenti i marrjes se kampionit.
• Marrja e prolaktines ka protokoll te vecante; ndikohet nga stresi
• Skema klasike e dozimit:
1. Ne diten e 4 te ciklit: FSH, LH, Prolaktine, Estradiol, Testosteron
2. Ne diten 14 te ciklit: FSH,LH, Estradiol
3. Ne diten e 21 te ciklit: FSH, LH, Estradiol, Progesteron
4. Ne diten e 28 te ciklit: Progesteron
 Vleresimi i infertilitetit
• Nese pesha e pacientes eshte me e vogel se 47 kg dhe BMI < 19, kerkojme vec te tjerash
dozimin e LH, FSH, PRL(prolaktines), dhe LHRH. Nese LH dhe FSH rezultojne normale ose te
reduktuar, PRL normale, sekretimi i LHRH i reduktuar ose zero, flasim per anovulacion
hipotalamik.
• Ne rastet kur pacientja referon amenorre ose galaktorre dozojme prolaktinen. Nese
prolaktina eshte e larte, i rekomandojme pacientes ekzaminimin rentgenografik te kraniumit
dhe dozimin e TSH. Nese TSH rezulton i shtuar, flasim per hipotiroidizem. Nese ekzaminimi i
kraniumit del i alteruar flasim per prolaktinome.
• Ne tumoret hipofizare FSH dhe LH rezultojne te ulur ndersa prolaktina normale. Zakonisht
kjo situate shoqerohet dhe me alterime te hormonit te rritjes, TSH ose ACTH. Ekzaminimi
rentgenografik i kraniumit ne nje situate te tille, jep informacion mjaft te rendesishem.

MONITORIMI I BARIT TERAPEUTIK:
 QE TESTI I MONITORIMIT TE BARIT TERAPEUTIK TE
KETE VLERE DUHET QE provohet qe peqendrimi
plazmatik I barit dhe efekti I tij jane te lidhur
 Marrja e mostrave:
pyetet pt:
 lidhur me kompliancen
barna nderveprues
doza dhe koha e fundit nga doza e marre
 te merret ne kohen e duhur
 Shkaqet per nivele subterapike ose toksike
• Ne rast se pacientja referon oligo ose amenorre, virilizim dhe obezitet, kerkojme dozimin e
testosteronit total dhe te lire, dozimin e DHEA-SO4 si dhe ekografine e skanerin e ovareve
dhe gjendres mbiveshkore te cilat mund te konstatojne pranine e ovarit polikistik. Krahas
ketyre ekzaminimeve, me vlere paraqitet dhe dozimi i kortizolit kur dyshohet per sindrom
Cushing ose i 17OH progesteronit kur dyshojme per hiperplazi surrenalike.
• Disgenezia ovarike dhe insuficienca ovarike premature shoqerohen me perqendrime te
larta te FSH dhe reduktim te sekretimit te E2 . Ne diagnoze ndihmon dhe studimi
kromozomal.
 Diagnoza e shtatzanise
• HCG total
• Beta HCG
• Abdomen akut – barra ektopike
 Monitorimi i shendetit te gruas shtatzene
• Monitorimi i shtimit ne peshe
• Funksionet respiratore
• Funksioni renal
• Metabolizmi i karbohidrateve (diabeti i shtatzanise)
• Metabolizmi i proteinave
• Ndryshimet hormonale (HCG)
• Anemia
• Patologjite e lidhura me shtatzanine
 – Diabeti – Hipertensioni ose preeklampsia = pamjaftueshmeri placentare + prapambetje ne
rritjen uterine fetale.
Eklampsia qe mund te pasoje mund te behet shkak per vdekje te nenes.
• Karakteristikat klinike te preeklampsise: – Hipertension, hiperuricemi (ne fillim) – Ulje e
GFR, proteinuri, Steatoze hepatike, Ure dhe kreatinine e larte (format e vonshme) –
Kolestaza obstetrike (rrezikon beben nga vdekja intrauterine)
TDM – monitorimi terapeutik i medikamenteve
TDM
•Aktivitet i rendesishem i laboratoreve klinike
• Kerkon kampion te vlefshem, percaktim te perqendrimit te medikamentit ne kampion ne kohen e
duhur dhe me metoda te sakta
•Rezultati interpretohet ne konteksin farmakokinetik (merret parasysh dozimi)
• Fillimet ne 1927 pasuar nga zhvillim i shpejte
• shtimi i numrit te preparateve
• zhvillimi i metodikave precize dhe te shpejta
• perdorimi i kompiuterit me te dhenat e analizes farmakologjike per parashikimin e regjimit
medikamentoz
 nivele subterapike:
 jokomplianca
 doza shume e ulet
 keqperthithja
metabolimi I shpejte
nivele toksike:
 mbidoza
doza shume e larte
 doza shume e shpeshte
 funksion I demtuar I veshkave
 metabolizem I melcise I zvogeluar
 Nderveprimi I barit
•Ofron nje menyre shkencore per zgjedhjen e regjimit te medikamentit dhe optimizimin e terapise.
TDM -
• Matja e perqendrimit terapeutik te preparatit – vetem nje ane e TDM
• Ne rutine, klinicistet monitorojne farmakodinamiken e medikamenteve duke matur direkt indekset
fiziologjike te pergjigjes terapeutike (p.sh. Matja e presionit te gjakut, glicemise, profilit lipidik, testet
e koagulimit etj)
• Ne praktiken klinike, TDM emertohet dozimi i preparatit
• TDM bazohet ne konceptin e lidhjes se dozes se medikamentit me perqendrimin ne gjak dhe
efektet farmakodinamike
Doza (variabilitet farmakokinetik)
Absorbim
Shperndarje
Metabolizem
Eliminim Gjak (variabilitet farmakodinamik)
Lidhje me R
Pergjigje e R Efekt Klinik
TDM – te dhena te pergjithshme
• Efekti farmakologjik (terapeutik ose toksik) mund te realizohet nga bashkeveprimi i medikamentit
me receptorin qe kontrollon nje funksion specifik ose nga alterimi qe medikamenti i ben rregullimit
te nje procesi fiziologjik
• Per shumicen e medikamenteve, intensiteti dhe zgjatja e efektit farmakologjik jane proporcionale
me perqendrimin e medikamentit ne nivel te receptorit
• Perdorimi praktik i TDM bazohet ne premisen se pergjigja farmakologjike korrelon me mire me
perqendrimin e medikamentit target ne vendin e veprimit (receptor) matja e veshtire dhe ne disa
raste e pamundur
 TDM – te dhena te pergjithshme
• Sistemi qarkullues i gjakut eshte nje rruge e pershtatshme per dergimin me efektivitet te
shumices se medikamenteve ne vendin e veprimit
• Perqendrimi i medikamentit ne gjak nuk eshte domosdoshmerisht i barabarte me
perqendrimin ne receptor
• Studimet kane treguar se per shume medikamente ekziston nje korrelacion i forte midis
perqendrimit te medikamentit ne serum dhe efektit farmakologjik
 Perqendrimi i medikamentit ne gjak
Diapazoni terapeutik (dritarja terapeutike) eshte lidhja ndermjet perqendrimit efektiv
minimal (MEC) dhe perqendrimit toksik minimal (MTC)
• MEC – perqendrimi me i ulur ne te cilin perfitohet efekti terapeutik
• MTC – perqendrimi me i vogel ne te cilin shfaqen efektet toksike
Ne nje cikel optimal dozimi, perqendrimi minimal i medikamentit nuk bie nen MEC dhe piku i
perqendrimit (perqendrimi maksimal) duhet te jete me i vogel se MTC
 • Perqendrimet me te larta se MTC – rrisk per toksicitet
• Perqendrimet me te ulura se MEC – nentrajtim
 Indikacionet per TDM
• Kur perdorimi i barit mund te shoqerohet me pasoja serioze te mbi ose nendozimit; Per
shume medikamente ka diference te vogel midis dozes terapeutike dhe asaj toksike
• Perdorimi i medikamentit mund te ndikoje ne gjendjen fiziologjike te pacientit qe mund te
ndikoje ne menyre te paparashikuar ne perqendrimin qarkullues te tij
•Bashkeveprimi ndermjet medikamenteve mund te krijoje interferenca ne veprim
• TDM na ndihmon per te monitoruar kompliancen e pacientit
 Permes dozimit te perqendrimit te medikamenteve ne lengjet biologjike ne:
•Verifikojme nese pacienti merr medikamentin sipas pershkrimit te mjekut (komplianca)
• Sigurohemi qe doza eshte e mjaftueshme per te prodhuar efektin e kerkuar por jo aq e
larte sa te shkaktoje efekte toksike
• Per te diagnostikuar efektet anesore ose nderveprimet e medikamenteve
• Percaktojme llojin e medikamentit apo medikamenteve te marre “overdoze” dhe nevojen
per trajtim mjekesor ne kete rast
 Indikacionet per TDM Rruget e administrimit
Secila prej rrugeve te meposhtme paraqet karakteristika qe influencojne ne perqendrimin
qarkullues te medikamentit
1. Administrim nga goja (me i zakonshmi)
2. Rektal
3. Intravenoz (IV)
4. intramuskular (IM)
5. Subkutan
6. Inhalim
7. Absorbim nga lekura
 Faktoret qe prekin perqendrimin plazmatik te medikamentit
• Absorbimi • Metabolizmi • Ekskretimi • Depozitimi indor • Vendi i veprimit (numri i
receptoreve)
 Absorbimi
Eficienca e absorbimit te medikamenteve nga trakti gastrointestimal varet nga shume
faktore:
• Tabletat dhe kapsulat kerkojne tretje para absorbimit; likidet absorbohen me shpejt
• Acidet e dobeta absorbohen me efikasitet te larte ne stomak; bazat e dobeta absorbohen
ne intestin Absorbimi ndikohet nga:
• Ndryshimet e pH
• Motiliteti gastrik
• Vaskularizimi Disponibiliteti biologjik i medikamentit varet nga absorbimi.
Disponibiliteti biologjik ndikohet dhe nga ekskretimi hepatik
• Te gjitha substancat, perfshi medikamentet, absorbohen ne zorre dhe permes venes porta
 kalojne ne hepar
• Disa medikamente pasi kapen nga hepari, metabolohen pa kaluar ne qarkullimin sistemik
(first-pass metabolism)
Perdorimi i TDM, ndihmon te percaktojme dozim efektiv
 Shperndarja Pas absorbimit ne gjak, medikamenti shperndahet drejt indeve
Sasia e medikamentit qe do te kaloje ne qeliza varet nga:
• Tretshmeria • Lidhja me komponentet qarkullues sidomos proteinat • Lidhja me
receptoret • Aftesia per te kapercyer membranat
 Shperndarja e medikamentit midis gjakut dhe indeve shprehet ne menyre sasiore si
Volumi i Shperndarjes
Lidhja me proteinat plazmatike
Forma aktive e medikamentit eshte forma e lire
Lidhja me medikamentet mund te jete selektive
• Preparatet acide lidhen kryesisht me albuminat
• Preparatet bazike lidhen kryesisht me globulinat
 Afiniteti i lidhjes me proteinat mund te preket nga nderveprimi medikamentoz (p.sh.
Ac.valproik largon fenitoinen nga lidhja me albuminat)
Edhe kur perqendrimi total i medikamentit mbetet i pandryshuar, zhvendosja prej lidhjes me
proteinat rrit fraksionin e lire qe kalon membranat dhe mund te prodhoje toksicitet
Cdo faktor qe ul fraksionin e lire alteron disponibilitetin biologjik te medikamentit
 Ekskretimi
• Metabolizmi hepatik, filtrimi renal ose kombinimi i dy rrugeve eliminon shumicen e
medikamenteve
• Ndryshimet funksionale te ketyre organeve mund te shoqerohen me ndryshime ne ritmin e
eliminimit te medikamenteve
• T ½, gjysmejeta eshte koha e pergjysmimit te perqendrimit plazmatik . Klirensi metabolik
• Shumica e medikamenteve jane xenobiotic d.m.th. substanca qe nuk gjenden zakonisht ne
sistemet humane, shpesh te paafte per tu metaboluar ne rruget normale biokimike per
substancat endogjene
• Xenobiotiket metabolohen ne hepar nga sistemet enzimatike mikrozomale (shtohet
tretshmeria) (shih leksionin e heparit)
• Oksidim, reduktim ose hidrolize
• Konjugim
• Metabolitet eliminohen ne rruge biliare ose renale
• Induksioni enzimatik (p.sh. nga fenobarbitali) ndikon ne ritmin e metabolizmit 14
Ekskretimi - Renal
•Veshkat jane organi kryesor ekskretor
•Ne semundjet renale ne eliminimin e medikamenteve perfshihen dhe rruge te tjera si: •
Trakti biliar • Pulmonet •Gjendrat e djerses
•Medikamentet e tretshme ne H2O ekskretohen me lehte se ato liposolubile
 •Ulja e ritmit te filtrimit glomerular ndikon direkt ne shtimin e gjysme jetes dhe
perqendrimit qarkullues te medikamenteve
 Faktore te tjere qe ndikojne ne perqendrimin plazmatik te medikamenteve
• Nderveprimet medikamentoze – Nese pershkruhen disa medikamente ne te njejten kohe,
njeri prej tyre mund te preke koncentrimin e tjetrit duke alteruar lidhjen me proteinat,
ritmin e metabolizmit dhe ekskretimit
• Toleranca – Disa medikamente (p.sh. fenitoina) induktojne sintezen e enzimave qe
inaktivizojne ato dhe per pasoje doza me te medha se te zakonshmet duhen perdorur per te
arritur efektin e deshiruar. Ne raste te tjera, ndjeshmeria e reduktuar e receptoreve kerkon
doza me te medha se normalja per te arritur perqendrimin plazmatik dhe efektin e
deshiruar.
• Variacionet e pacientit - Ritmi i metabolizmit te disa medikamenteve varet nga mosha e
pacienteve
• Femijet premature kane mekanizma detoksikimi te papjekur ; metabolizmi dhe ekskretimi i
disa medikamenteve eshte me i ngadalte se tek adultet
• Femijet kane metabolizem me te shprehur se adultet dhe per pasoje mund te eliminojne
disa medikamente me shpejt se adultet
• Te moshuarit metabolojne medikamentet me ngadale
• Ritmi i metabolizmit te disa medikamenteve mund te preket nga faktore gjenetike ose
raciale.
 Menyrat e monitorimit te trajtimit medikamentoz
1. Perdorimi i kritereve klinike (masim presionin e gjakut per vleresimin e efektit
antihipertensiv)
2. Perdorimi i efekteve biokimike laboratorike • Dozimi i TSH kur perdorim terapi me
tiroksine • Dozimi i Ca dhe ALP per monitorimin e trajtimit me vit D per hipokalcemi • Dozimi
i lipideve kur perdorim statina • Dozimi i nivelit te protrombines per monitorimin e terapise
me varfarine
3. Matja e perqendrimeve plazmatike te medikamentit ose metaboliteve te tij indikohet ne
situatat e meposhtme : • Kur rezultati i deshiruar i trajtimit nuk mund te matet me precizion
(p.sh. dozimi i antikonvulsivanteve ) • Per preparate qe kane nje diapazon terapeutik mire te
percaktuar por me nje ndarje te ngushte nga perqendrimet toksike (litium, digoksine) • Per
te monitoruar metabolizmin e mjaftueshem te medikamentit ne metabolite aktive (dozimi i
fenobarbitalit ne trajtimin me primidon)
 Shkaqet e zakonshme per nivele toksike dhe subterapeutike
•Nivelet subterapeutike • Mungesa e kompliances • Doza shume e ulet • Keqthithja •
Metabolizimi i shpejte
•Nivelet toksike • Mbidozimi • Doza toksike • Marrja e shpeshte (jo sipas pershkrimit) •
Funksioni i demtuar i veshkave • Funksioni i demtuar i heparit
 Preparatet qe monitorohen zakonisht
A. Preparate kardiake • Digoxin • Amiodaron
 B. Antibiotike • Amikacin, gentamicin, vancomycin
C. Antiepileptiket • Phenobarbital • Fenitoin • Karbamazepin • Acid valproik
D. Preparatet psikoaktive – Lithium
E. Imunosupresoret • Cyclosporine • Tacrolimus
F. Antineoplastiket – Methotrexate
G. Teofilina H. Antituberkularet – Isoniazidi
 • Per shumicen e medikamenteve kampioni merret para administrimit te dozes se radhes
• Zakonisht piku i perqendrimit arrihet rreth 1ore pas administrimit oral
•Disa medikamente si digoksina, absorbohen ngadale dhe kerkojne disa ore per arritjen e
pikut plazmatik
•Ne te gjitha rastet, percaktimi i perqendrimit plazmatik te medikamentit behet pas arritjes
se perqendrimit te qendrueshem
 • Kampionet per dozim – serum ose plazem 20 Digoksina
• Digoksina eshte preparat qe perdoret ne semundjet kongjestive kardiake dhe fibrilacion
atrial
• Efektet toksike nga mbidozimi: • Kontraktim prematur ventrikular • Bllokim te percimit
atrioventrikular • Diapazoni terapeutik: 0.8-2 ng/mL
• Absorbimi oral eshte variabel dhe influencohet nga faktore dietetike dhe lloji i
medikamentit (formulimi)
• Eliminimi ne rruge renale
• Vleresimi i perqendrimit te digoksines eshte i rendesishem ne situatat e meposhtme:
• Per te vleresuar kompliancen e pacientit
• Ne paciente (p.sh. tek te moshuarit) ku diferenca midis toksicitetit dhe zones terapeutike
eshte e ngushte, ose ku ka gjysme jete te shkurter per shkak te eliminimit te shtuar
• Kur eshte e veshtire te percaktojme dozen terapeutike per shkak te volumit anormal te
shperndarjes (obezitet, edeme)
• Ne raste te demtimeve te ekskretimit (p.sh. disfunksion renal)
• Ne paciente qe marrin medikamente te tjera si p ; sh. Amiodaron i cili redukton ritmin e
ekskretimit
• Kujdes interpretimi ne hipokalemi, acidoze, hipotiroze etj
 Amiodaroni
• Amiodaroni perdoret per te trajtuar aritmine kardiake
• Medikamenti lidhet fort me proteinat dhe ka gjysme jete te gjate (deri 10 – 40 dite pas
dozes se pare dhe deri 100 dite ne terapi kronike).
• Amiodaroni nuk ekskretohet ne urine, por metabolohet kryesisht ne hepar.
 Metaboliti desethylamiodarone eshte perseri aktiv.
• Amiodaroni eshte potencialisht shume toksik, shkakton reaksione fotosensitive, fibroze
pulmonare dhe mikrodepozita korneale.
• Amiodaroni bllokon kthimin e fraksionit te lire te T4 ne T3 (fraksion aktiv) duke shkaktuar
hipotiroze.
 • Meqenese amiodaroni permban iodine, rralle ai mund te shkaktoje dhe hipertiroze
 Antibiotiket - Aminoglukozidet
• Trajtojne infeksione me bakterie gram negative
• Gentamycin, tobramycin, amikacin, kanamycin
• Diapazoni terapeutik 4 - 10 g/mL
• Toksiciteti perfshin; nefrotoksicitet, ototoksicitet etj
• Eliminohet ne rruge renale
• Perqendrimi plazmatik i aminoglukozideve zakonisht matet dy here:
1. Matja e pare – kampioni merret menjehere pas injektimit per te kuptuar shpejtesine dhe
nivelin e rritjes se perqendrimit ; te dhenat ndihmojne per te percaktuar intervalin e
injektimit te dyte.
2. Matja e dyte – kampioni merret 1 ore pas injektimit, ne kohen kur duhet te arrihet niveli i
pikut; me kete matje sigurohemi te kemi arritur perqendrimin adekuat per veprimin
antibakterial.
 Antiepileptiket Perdoren per trajtimin e epilepsise dhe konvulsioneve (profilaksi)
Phenobarbital – depresant i SNQ
• Barbiturat qe absorbohet ngadale ne rruge orale dhe ka t ½ te gjate • Primidoni eshte
preforma e fenobarbitalit (inaktive) – absorbohet shpejt dhe konvertohet ne forme aktive •
Diapazoni terapeutik: 15 - 40 ng /ml
• Toksiciteti: lodhje, depresion, pergjumje
• Perdoren me pak por kur perdoren, kerkojne monitorim
Karbamazepina – perdoret per trajtimin e atakeve toniko-klonike parciale ose te
gjeneralizuara duke frenuar kanalet e natriumit. Ajo perdoret gjithashtu per trajtimin e
neuralgjise trigeminale, neuropatise diabetike dhe gjithashtu si profilaksi ne crregullimet
bipolare.
• Karbamazepina ka nje metabolit aktiv te formuar ne hepar (carbamazepine 10,11-epoxide).

• Karbamazepina lidhet me proteinat ne masen 80 %

• Karbamazepina indukton metabolizmin e vet; per pasoje perqendrimi plazmatik mund te
bjere ne fund te muajit te pare te terapise gje qe rezulton me kerkese per rritje te dozes.
• Perqendrimi terapeutik antiepileptik 8 – 12 mg/L;
 Preparatet psikoaktive Lithium: • Perdoret per trajtimin e crregullimeve afektive bipolare •
Absorbim komplet dhe i shpejte • Shperndarje uniforme • Eliminim renal • Diapazoni
terapeutik: 0.8 – 1.2 mmol/l • Toksiciteti: apati, veshtiresi ne artikulim te fjaleve, dobesi
muskulare
 Preparatet imunosupresore • Perdoren per te parandaluar flakjen e transplantit •
Cyclosporin: • Polipeptid ciklik qe eliminohet nga metabolizmi hepatik (produkte inaktive) •
Doza varet nga organi i transplantuar (zemer, veshke, hepar, pankreas) • Efektet toksike
shfaqen ne perqendrime me te larta se 350-400 ng/ml. • Toksiciteti: disfunksion renal
tubular dhe glomerular
 Teofilina • Dozimi i teofilines eshte i nevojshem sidomos ne ataket astmatike akute qe nuk
pergjigjen klinikisht; rezultati i marre do te verifikoje nese mospergjigja eshte reflex i
nendozimit te medikamentit. • Teofilina dhe metaboliti aktiv i saj kafeina, perdoret ne
menazhimin e apnese rekurente tek i porsalinduri; ne kete moshe, klirensi i teofilines eshte i
ngadalte dhe ajo pjeserisht metabolohet ne kafeine. Keshtu, dozimi i perqendrimit te
teofilines dhe kafeines eshte i domosdoshem per te kapur efektet terapeutike dhe per te
shmangur efektet toksike. • Kampionet per dozimin e teofilines duhen marre ndermjet 2 dhe
4 oresh pas dozes se fundit. Gjysme jeta e teofilines eshte me e shkurter tek duhanpiresit.

Farmakogenetika • Studion efektin e heterogjenitetit genetik ne pergjigjen ndaj mjekimit.

Gjenet qe kodojne per enzimat qe metabolojne medikamentet, receptoret dhe
transportuesit mund te influencojne ne pergjigjen individuale. • Familja e enzimave citokrom
P450 vartese eshte pergjegjese per metabolizmin e shume medikamenteve. Diferencat
gjenetike ne enzimat citokrom P450 vartese (CYP) jane pergjegjese per biodisponibilitetin e
alteruar te medikamenteve. (studime me varfarinen dhe tamoksifenin) • Tiopurine
metiltransferaza(TPMT) merr pjese ne metabolizmin e azathioprines nje medikament
citotoksik por qe perdoret dhe si imunosupresant. Enzima ka variabilitet farmakogjenetik;
keshtu rreth 90% e popullates se UK ka perqendrime te larta te enzimes. 10% e popullates
jane heterozigote per deficit te TPMT dhe vetem 0.3% jane homozigote per deficitin e plote
funksional. Keto dy grupe te fundit jane te prekshem nga toksiciteti i azotioprines. Percaktimi
i aktivitetit te TPMT ne RBC para administrimit te azotioprines sherben si udherrefyes per
terapine.

 Monitorime biokimik i efekteve anesore
• Dozojme ure, kreatinine, Na, K, ne pacientet qe marrin terapi diuretike ose frenues te
enzimes angiotensin konvertuese (ACE inhibitore)
• Vleresojme funksionin hepatik (p.sh. mes dozimit te transaminazave) kur perdorim
preparate me efekt hepatotoksik si valproati i Na
• Vleresojme funksionin renal kur perdorim preparate me efekt nefrotoksik si ciklosporina
• Statinat shkaktojne ne disa raste rhabdomiolize dhe demtim muskular qe mund te
detektohen duke matur perqendrimin plazmatik te kreatin kinazes (CK).
 Toksikologjia Klinike • Toksikologjia klinike – teresia e ekzaminimeve per te percaktuar
shkakun dhe trajtimin e pacienteve te helmuar • Shkaktaret me te shpeshte te helmimit jane
barnat (por jo te vetmit)
• Ekzaminimet perfshijne:
1. Vleresimet e pergjithshme biokimike: ure, glicemi, elektrolite, ALT, AST, Bilirubine, EAB
2. Teste plotesuese kur njohim natyren e shkaktarit(tabela)
Toksina Testet biokimike
Amfetamina, Ekstazi CK, AST
Monoksidi i karbonit Karboksi Hb
 Kokaina CK, Kalium
Digoksina Kalium
Etilen glikoli Osmolariteti i serumit, Ca
Fluoridet Ca, Mg
Insulina Glukoza, Peptidi C
Hekuri Hekuri, Glukoza
Plumbi (kronik) Pb, Zn, Protoporfirina
Fosfoorganiket Kolinesteraza
Paracetamoli Paracetamoli
Salicilatet Salicilatet
Teofilina Glukoza
Varfarina INR (PT)
 Toksiciteti nga mbidozimi
•Ne te gjitha rastet qe paraqiten ne gjendje kome me origjine te panjohur duhen perjashtuar
mbidozimet e medikamenteve.
• Klinika e pazakonte dhe te dhenat laboratorike mund te sugjerojne ne keto raste
perdorimin overdoze te medikamenteve ose alkolit ne menyre te vullnetshme ose jo.
• hipokalemia eshte shenje qe sugjeron abuzim me substanca purgative
• hipoglicemia shoqeron shpesh perdorimin e shtuar te alkolit
• Perqendrimi i larte i CK eshte nje indikacion ndihmes per diagnozen e abuzimit me kokaine
ose Ecstasy
• Te pakten ½ e pacienteve qe tentojne suicid perdorin medikamente ose alkol.
 Shkaktaret me te shpeshte te helmimeve
Paracetamoli (acetaminophen) • Paracetamoli ka nje metabolit hepatotoksik qe
detoksikohet duke u konjuguar me glutationin (metabolizmi eshte saturues). Konsumi i
glutationit con ne demtim hepatik. • Propabiliteti i hepatotoksicitetit nuk mund te
parashikohet nga te dhenat klinike
• Antidot specifik eshte N-acetilcisteina dhe metionina pasi ato bejne te mundur konvertimin
e paracetamolit ne metabolite inaktive. Metionina jepet nga goja por shkakton te vjella. N-
acetilcisteina perdoret me shpesh pasi jepet intravenoz.
• Pacientet qe marrin medikamente qe induktojne enzimat si fenitoina, rifampicina,
karbamazepina, alkoli si dhe pacientet qe vuajne nga anoreksia ose infeksioni HIV kane rrisk
me te larte per toksicitet nga paracetamoli.
• Identifikimi i demtimit hepatik realizohet permes matjeve te perseritura te :
• Aktivitetit te transaminazave (qe mund te rriten deri 10000 U/L)
• Nivelit te protrombines dhe INR
 Shkaktaret me te shpeshte te helmimeve Alkoli
• Marrja e shtuar e alkolit eshte shkaku me i zakonshem i semundjeve hepatike ne boten
perendimore.
• Perdorimi kronik i alkolit demton heparin gradualisht duke shkaktuar fillimisht hepatit
 alkolik dhe duke progreduar (nese perdorimi i alkolit nuk nderpritet) ne steatoze, fibroze dhe
cirroze hepatike.
• Rruga e metabolizmit hepatik te alkolit eshte: Alkol →acetaldehide→acetat.
• Gjate ketij transformimi rritet raporti NADH/NAD+; frenohet kthimi i laktatit ne piruvat dhe
glukoneogjeneza qe shoqerohet me acidoze laktike dhe risk per hipoglicemi; kemi depozitim
te pamjaftueshem te glikogjenit(ushqyerje e keqe) = hipoglicemi; nxitet sinteza e TG, VLDL =
steatoze; steatoza shoqerohet me ndryshim te perqendrimit te transaminazave.
• Polimorfizmi gjenetik i alkol dhe aldehid dehidrogjenazave ndikon ne sasine dhe efektin
toksik te acetaldehides.
 Shkaktaret me te shpeshte te helmimeve
Alkoli - Helmimi akut
• Perqendrimi i larte mund te shkaktoje kome
• Situatat zakonisht jane komplekse, te pranishme dhe droga te tjera apo trauma kraniale
• Matjet ndihmese:
• Etanoli ne gjak
• Osmolariteti i plazmes dhe GAP osmolar
• Ne mungese te demtimeve renale dhe hepatike – sherimi i shpejte (oksigjenim, permiresim
i qarkullimit hepatik)
 Helmimi kronik
• Pasojat e perdorimit kronik:
• Tolerance e demtuar e glukozes dhe diabet
• Hipertrigliceridemi
• Cirroze hepatike
• Hipertension portal dhe varice te ezofagut
• Anemi, trombocitopeni
• Kardiomiopati
• Neuropati periferike
• Diagnoza laboratorike (testet nuk jane specifike)
• GGT e larte • Hipertrigliceridemia • hiperuricemia
 Substanca dhe medikamente te tjera
 • Benzodiazepinat – mbidozimi con ne depresion respirator dhe acidoze respiratore. Antidot
per nje pjese te veprimeve patologjike eshte flumazenili.
 • Ethylene glycol(antifreeze) – perdorimi aksidental ose per suicid i tij mund te shkaktoje
acidoze metabolike, renale dhe hepatike si dhe hipokalcemi(per shkak te kthimit te oksalatit
ne oksalacetat). Administrimi terapeutik i etanolit redukton konversionin e etilen glikolit ne
metabolite toksike duke konkuruar per alkol dehidrogjenazen.
 • Metanoli – shkakton demtim renal, hipoglicemi, acidoze metabolike rhabdomiolize si dhe
shtim te perqendrimit te amilazes. Infuzioni i etanolit frenon alkol dehidrogjenazen qe te
veproje me metanolin dhe te formoje acidin formik shume toksik.
 • Opiatet – perdorimi i tyre shkaktoi depresion respirator dhe acidoze respiratore. Naloxoni

Patofiziologjia e kores se gjendres mbiveshkore:
mund te ktheje disa prej efekteve te opiateve si morfina dhe heroina.
 • Salicilatet – shkaktojne acidoze te rende metabolike .
 Mjekimi behet me infuzion te bikarbonatit te Na
 • Teofilina – mbidozimi mund te shkaktoje aritmi, hipokalemi deri ne vdekje. Kur dyshojme
per helmim, dozojme preparatin. Masat per te ndihmuar eliminimin jane te kufizuara
 • Cianidet – perdorimi i cianideve con ne acidoze laktike. Matja e ekuilibrit acido-bazik ne
kete rast eshte e domosdoshme. Antidotet perfshijne dicobalt edetate, sodium nitrite dhe
sodium thiosulphate te cilat mund te mbrojne sistemin e transportit mitokondrial te
elektroneve nga bllokimi prej cianidit.
 • Monoksidi i karbonit – mund te shkaktoje hipoksi pa cianoze. Nese mbi 60% e
hemoglobines kthehet ne karboksihemoglobine mund te shkaktohet bllok respirator dhe
vdekje. Terapia oksigjenike, ne disa raste hiperbarike, mund te eliminoje CO nga
hemoglobina.
 • Insekticidet organofosforike – kane si antidot frenuesit e kolinesterazes si atropina ose
pralidoxime. Trajtimi monitorohet duke perdorur aktivitetin e acetil – kolinesterazes. •
Glikozidet kardiake – farmaceutike ose herbale, shkaktojne bradikardi te rende • Atropine –
shkakton efekte antikolinergjike si halucinacione, tharje te gojes, lekure e nxehte dhe e
thate, bebe te zgjeruara.
 Substanca dhe medikamente te tjera Medikamentet per te cilat nuk ka antidot specifik
• Per nje pjese te helmimeve kemi antidot specifik si ne shembujt me poshte: • Varfarina –
vitamina K • Paracetamol – N-acetil cisteine • Etilen glikol/ Metanol – Etanol
• Nuk ka antidot specifik per shumicen e mbidozimeve medikamentoze.
• Mbidozimi i salicilateve eshte nje nga me te zakonshmit dhe per te cilin nuk ka antidot
specifik. Diureza e forcuar mund te rrise ekskretimin e salicilateve ne mbidozimet e renda.
Induktimi i alkalozes eshte nje rruge per te siguruar eliminimin e shtuar te medikamenteve
acide. Ne keto raste duhet te monitorojme perqendrimin plazmatik te kaliumit dhe pH e
gjakut pasi pacientet rrezikohen nga hipokalemia akute.
• Ne rastet kur nuk kemi antidot specifik, eshte i rendesishem monitorimi i terapise permes
testeve biokimike per balancen e elektroliteve dhe acidobazike ne gjak, per funksionin
hepatik apo renal.
 Koma – testet laboratorike per diagnoze
• Aksidenti cerebrovaskular • Ekzaminimi i LCS (prania e gjakut ndihmon ne diferencimin e
hemoragjise subaraknoidale nga infarkti cerebral) • CT ose MRI
• Infeksionet – meningit bakterial vecanerisht meningokosik, meningiti viral, encefaliti viral •
LCS ne format bakteriale: leukocitoze, proteine e larte, glukoze e ulur • LCS ne format virale:
proteina normale, glukoza normale ose pak e ulur
• Shkaktaret metabolike • Hipoglicemi ose Hiperglicemi • Endokrinopati: hipotiroze,
hipoadrenalizem, hipopituitarizem • Hiponatremi, hipernatremi • Koma alkolike • Mbidozimi
i trankuilizanteve • Helmimi me monoksid karboni • Koma hepatike
Understanding the pathophysiology of the adrenal cortex is crucial for comprehending various
Mbiveshkorja= korteks + medule disorders related to adrenal hormone production.
 Korteksi
 Medula=NA; A;DOPAMINE  Adrenal Cortex:
 Kortizoli The adrenal cortex is the outer layer of the adrenal gland and is responsible for the production of
zona fasciculata dhe zona retricularis several hormones, including glucocorticoids (e.g., cortisol), mineralocorticoids (e.g., aldosterone),
CRH(hormoni lirues I korikotrofines) and adrenal androgens (e.g., dehydroepiandrosterone). These hormones play vital roles in regulating
HIPOTALAMUS various physiological processes in the body.

ACTH (hormoni adenokortikotrofik) hipofiza  Hypofunction of the Adrenal Cortex:
anterore Hypofunction of the adrenal cortex refers to the decreased production or insufficient secretion of
 adrenal hormones. The primary causes include:
KORTIZOL
(antiinflamator & imunosupresiv)  Primary Adrenal Insufficiency (Addison's Disease): Addison's disease occurs when the
adrenal glands are damaged or destroyed, leading to decreased production of adrenal
 Androgjenet adrenal: hormones.
 Vleresim I funksionit te boshtit hipotalamik- Autoimmune destruction, tuberculosis, adrenal hemorrhage, or infiltrative diseases can
hipofizar-adrenokortikal cause primary adrenal insufficiency.
 Aldosteroni Symptoms may include fatigue, weight loss, low blood pressure, electrolyte imbalances, and
 HIPERPLAZI ADRENALE KONGENITLAE: hyperpigmentation.
95 % te rasteve mungon 21 hidorksilaza  17-  Secondary Adrenal Insufficiency: Secondary adrenal insufficiency results from insufficient
hidroksiprogesteroni production of adrenocorticotropic hormone (ACTH) by the pituitary gland or a deficiency of
ANDRENALET NUK mund te sekretojne kortizolin corticotropin-releasing hormone (CRH) by the hypothalamus.
 KORTIZOLIT;  acth;  androgjeneve Causes may include pituitary or hypothalamic tumors, trauma, or prolonged corticosteroid
use.
HIPOFUNKSION I KORES ADRENALE: Symptoms are similar to primary adrenal insufficiency but without hyperpigmentation.
 Insuficenca adrenale
 KORTIZOL;  aldosteron  Hyperfunction of the Adrenal Cortex:
 Pamjaftueshmeria adrenokortikale: Hyperfunction of the adrenal cortex refers to excessive production or over-secretion of adrenal
 shkaterrim selektiv I korteksit hormones. The main conditions associated with adrenal cortex hyperfunction are:
shkaterrim total adrenal  Cushing's Syndrome: Cushing's syndrome is characterized by excessive production of
insuf adrenale sekondare cortisol.
 Relative adrenal insufficency It can be caused by adrenal tumors (adrenal adenoma or carcinoma) or by excessive
secretion of ACTH from the pituitary gland (Cushing's disease).
HIPERFUNKSIONI I KORES ADRENALE: Symptoms may include central obesity, moon face, muscle weakness, hypertension,
 TEPRICA E KORTIZOLIT hyperglycemia, and osteoporosis.
 SINDROMA CUSHING  Primary Hyperaldosteronism (Conn's Syndrome): Conn's syndrome is caused by an
 PT obeze ose hipertensiv rriten gjasat per aldosterone-secreting adrenal adenoma or adrenal hyperplasia.
sindromin cushing It results in increased aldosterone production, leading to hypertension, hypokalemia, and
 Kortizoli I lire ne urine; vleresim I raportit kortizol: metabolic alkalosis.
 Congenital Adrenal Hyperplasia (CAH): CAH refers to a group of genetic disorders that affect
 kreatinine
 Pt me prodhim te tepert te kortizolit jane rezistent
ndaj insulines; nevojitet nje doze me e larte e
insulines qe te shkaktohet HIPOGLICEMI
 Individ normal:
 ulje [glukozes] ne me pak se 2,2 mmol/L rritje
te kortizolit per me shume se 200nmol/L
 Testi IST
 Shkaktaaret e mundshem:
tumor hipofizar; semundja e cushing
ACTH ektopik
ADENOMA adrenale
KARCINOMA ADRENALE
sindroma jatrogjene e cushing-ut
glukokortikoidet ekzogjene
 Sindroma CONN ose hiperaldosteronizmi paresor
humbje e kaliumit: polidipsi; poliuri; abnormalitete
muskulore; dobesim; parestezi; tetani;
HIPERTENSION hiper Na
adrenal steroid synthesis.
The most common form is 21-hydroxylase deficiency, leading to impaired cortisol and
aldosterone production.
CAH can cause ambiguous genitalia in females and adrenal crises in both sexes.
Laboratory Diagnosis:
The diagnosis of adrenal cortex pathophysiology involves laboratory tests to assess hormone levels
and functional status:
 Adrenal Hormone Assays: Measurement of cortisol, aldosterone, and adrenal androgens
(e.g., DHEA-S) in blood or urine samples can help identify hormone deficiencies or excesses.
 ACTH Stimulation Test: This test involves administering synthetic ACTH and measuring the
cortisol response. It helps differentiate primary adrenal insufficiency from secondary adrenal
insufficiency.
 Imaging Studies: Imaging techniques like computed tomography (CT) or magnetic resonance
imaging (MRI) can visualize adrenal tumors or identify structural abnormalities.
Treatment and Management:
The treatment of adrenal cortex pathophysiology depends on the underlying cause:
 Hormone Replacement Therapy: In cases of adrenal insufficiency, hormone replacement
therapy with glucocorticoids (e.g., hydrocortisone) and mineralocorticoids (e.g.,
fludrocortisone) is the mainstay of treatment.
The goal is to replace deficient hormones and restore normal physiological levels.
 Surgical Intervention: Adrenal tumors causing hyperfunction may require surgical removal
(adrenalectomy). In the case of primary hyperaldosteronism, removing the aldosterone-
producing tumor or managing adrenal hyperplasia can help restore normal aldosterone
levels.
 Medications: Certain medications may be used to manage specific conditions. For instance,
medications that inhibit cortisol synthesis or block aldosterone receptors may be prescribed
to control excess hormone production in Cushing's syndrome or primary
hyperaldosteronism, respectively.
 Genetic Counseling: In cases of congenital adrenal hyperplasia (CAH), genetic counseling is
important for affected individuals and their families. Early diagnosis, hormone replacement,
and ongoing management are crucial to ensure optimal growth, development, and
reproductive health.
Long-Term Monitoring and Complications:
Individuals with adrenal cortex pathophysiology require regular monitoring to evaluate hormone
levels, adjust medication dosages, and identify any potential complications. Long-term complications
associated with these conditions may include:
 Adrenal Crisis: Adrenal insufficiency can lead to adrenal crisis, a life-threatening condition
triggered by stress or illness. Prompt recognition and treatment with intravenous
glucocorticoids and fluid resuscitation are essential in managing adrenal crises.

 Cardiovascular Disease: Chronic excessive cortisol or aldosterone levels can contribute to the
development of cardiovascular complications, such as hypertension, cardiac arrhythmias,
and heart failure.

 Metabolic Disorders: Disorders such as Cushing's syndrome and primary hyperaldosteronism

are associated with metabolic disturbances, including glucose intolerance, insulin resistance,
dyslipidemia, and osteoporosis.

 Fertility and Reproductive Issues: Hormonal imbalances in conditions like CAH or Cushing's
syndrome can affect fertility, menstrual regularity, and sexual function. Proper management
and support are necessary for individuals facing these challenges.

KORTIZOLI:

Definition and Function:

Cortisol, also known as hydrocortisone, is a glucocorticoid hormone produced by the adrenal cortex.
It plays a crucial role in regulating various physiological processes, including:
 Glucose Metabolism: Cortisol stimulates
gluconeogenesis (the production of glucose from non-carbohydrate sources),
glycogenolysis (the breakdown of glycogen to release glucose), and
inhibits glucose uptake by peripheral tissues,
helping to maintain blood glucose levels during fasting or stress.
 Anti-Inflammatory and Immunosuppressive
Actions: Cortisol suppresses the immune system by inhibiting the production of pro-
inflammatory cytokines and leukocytes, reducing inflammation and immune responses.
 Regulation of Blood Pressure and Fluid Balance: Cortisol influences blood pressure regulation
by enhancing the vasoconstrictor response to catecholamines and promoting sodium
reabsorption in the kidneys, thus affecting fluid balance.
 Modulation of Stress Response: Cortisol is an essential component of the stress response,
increasing energy availability, and enhancing the body's ability to cope with stressors.

Regulation of Cortisol Secretion:

The secretion of cortisol follows a diurnal rhythm, with the highest levels in the morning and the
lowest levels in the evening. The hypothalamic-pituitary-adrenal (HPA) axis controls cortisol
production through the following steps:
  Hypothalamus: The hypothalamus releases corticotropin-releasing hormone (CRH) in
response to various signals, such as stress, low blood glucose, and circadian rhythm.
 Anterior Pituitary: CRH stimulates the release of adrenocorticotropic hormone (ACTH) from
the anterior pituitary gland.
 Adrenal Cortex: ACTH binds to receptors on the adrenal cortex, stimulating the synthesis and
secretion of cortisol.
 Negative Feedback: As cortisol levels rise, it exerts negative feedback on the hypothalamus
and pituitary gland, inhibiting further release of CRH and ACTH, thereby regulating cortisol
production.

Cortisol-Binding Proteins:
Cortisol circulates in the blood primarily bound to corticosteroid-binding globulin (CBG) or
transcortin. Only a small fraction of cortisol exists in its free, biologically active form. CBG helps to
transport cortisol and regulate its availability to target tissues.

Metabolism and Clearance:

Cortisol is metabolized in the liver and other tissues through enzymatic reactions. The primary
pathway involves conversion to inactive cortisone by the enzyme 11β-hydroxysteroid dehydrogenase
type 2 (11β-HSD2). Cortisone is then further metabolized and excreted by the kidneys.

Feedback Control and Regulation:

Cortisol production is tightly regulated through negative feedback mechanisms. Elevated cortisol
levels inhibit the release of CRH and ACTH, reducing further cortisol secretion. Conversely, low
cortisol levels stimulate the release of CRH and ACTH, increasing cortisol production.

Clinical Disorders:
Imbalances in cortisol physiology can lead to various clinical disorders:

Cushing's Syndrome: Excessive cortisol production, either due to adrenal tumors or excessive ACTH
secretion (Cushing's disease), can result in Cushing's syndrome. Symptoms include central obesity,
moon face, muscle weakness, hypertension, hyperglycemia, and osteoporosis.

Addison's Disease: Insufficient cortisol production due to adrenal gland damage or dysfunction leads
to adrenal insufficiency or Addison's disease. Symptoms include fatigue, weight loss,

Adrenal Androgens:

Understanding the role of adrenal androgens, specifically dehydroepiandrosterone (DHEA) and its
sulfate form (DHEA-S), is important in comprehending the physiological functions and clinical
implications of these hormones.

 Definition and Production:

Adrenal androgens are steroid hormones produced by the adrenal cortex, specifically in the zona
reticularis. The main adrenal androgens are dehydroepiandrosterone (DHEA) and its sulfated form,
dehydroepiandrosterone sulfate (DHEA-S). These hormones are considered weak androgens
compared to testosterone.

Role and Functions:

Adrenal androgens play several roles in the body, including:

 Pubertal Development: Adrenal androgens contribute to the development of secondary

sexual characteristics during puberty, such as the growth of pubic and axillary hair.
 Sex Hormone Precursors: DHEA and DHEA-S can be converted into more potent sex
hormones, such as testosterone and estrogens, in peripheral tissues, particularly in adipose
tissue.
 Metabolic Effects: Adrenal androgens have metabolic effects, including the promotion of
lipolysis (breakdown of fats), modulation of insulin sensitivity, and influence on body
composition.

Regulation:
The secretion of adrenal androgens is regulated by the hypothalamic-pituitary-adrenal (HPA) axis.
Adrenocorticotropic hormone (ACTH) released by the pituitary gland stimulates the synthesis and
release of adrenal androgens from the adrenal cortex. Factors such as stress, aging, and circadian
rhythm can influence the secretion of adrenal androgens.

Clinical Implications:
Imbalances in adrenal androgens can have clinical implications. Here are a few examples:

Congenital Adrenal Hyperplasia (CAH): CAH is a group of genetic disorders characterized by

impaired adrenal steroid synthesis, including a deficiency in the enzyme 21-hydroxylase. This leads
to elevated levels of ACTH and overproduction of adrenal androgens, resulting in virilization of
female infants, ambiguous genitalia, and early puberty in both sexes.

Polycystic Ovary Syndrome (PCOS): PCOS is a common endocrine disorder in women characterized
by hormonal imbalances, including elevated levels of adrenal androgens. This can result in
symptoms such as irregular menstrual cycles, hirsutism (excessive hair growth), acne, and
infertility.
Adrenal Tumors: Adrenal tumors, such as adrenal adenomas or adrenal carcinomas, can lead to
excessive production of adrenal androgens, causing symptoms of androgen excess, including
hirsutism, acne, and virilization in women.

Measurement:
The levels of adrenal androgens, particularly DHEA-S, can be measured in blood or urine samples to
assess their production and identify any abnormalities. These measurements can aid in the diagnosis
and monitoring of conditions such as CAH and adrenal tumors.

Evaluation of Hypothalamic-Pituitary-Adrenocortical (HPA) Axis Function:

Assessing the function of the HPA axis is important in diagnosing and monitoring various endocrine
disorders, including adrenal insufficiency, Cushing's syndrome, and other conditions related to
cortisol dysregulation.

Clinical Presentation and History:

When evaluating HPA axis function, it is crucial to consider the patient's clinical presentation and
medical history. Symptoms suggestive of HPA axis dysfunction may include fatigue, weight changes,
mood disturbances, hypertension, hyperpigmentation (in adrenal insufficiency), or signs of excessive
cortisol production (in Cushing's syndrome).

Cortisol Sampling:
Measurement of cortisol levels is a fundamental component of HPA axis evaluation. The timing and
type of cortisol sampling depend on the suspected disorder and the desired information. Common
cortisol sampling methods include:

 Morning Serum Cortisol: A fasting blood sample collected in the morning (between 6 a.m.
and 9 a.m.) provides baseline cortisol levels. Low morning cortisol levels may indicate
adrenal insufficiency, while high levels may suggest Cushing's syndrome.
 Overnight Dexamethasone Suppression Test: This test involves the administration of
synthetic glucocorticoid (dexamethasone) at bedtime and measuring cortisol levels the next
morning. Suppression of cortisol secretion indicates normal HPA axis feedback regulation,
while failure to suppress suggests Cushing's syndrome or other cortisol dysregulation.
 24-Hour Urinary Free Cortisol: Collecting urine over a 24-hour period allows for the
assessment of total cortisol output. Elevated levels may indicate Cushing's syndrome or
cortisol excess.
 ACTH Stimulation Test:
The ACTH stimulation test helps evaluate adrenal responsiveness to adrenocorticotropic hormone
(ACTH), the hormone that stimulates cortisol production. This test is useful in differentiating primary
(adrenal) from secondary (pituitary or hypothalamic) causes of adrenal insufficiency. It involves
administering synthetic ACTH (cosyntropin) and measuring cortisol levels before and after ACTH
stimulation. In primary adrenal insufficiency, cortisol response is blunted, while in secondary adrenal
insufficiency, cortisol response is generally preserved.

CRH Stimulation Test:

The corticotropin-releasing hormone (CRH) stimulation test is used to assess the integrity of the HPA
axis, specifically the hypothalamus and pituitary. It involves administering synthetic CRH and
monitoring ACTH and cortisol responses. A blunted response may indicate hypothalamic or pituitary
dysfunction, while an exaggerated response may suggest ectopic ACTH production or Cushing's
syndrome.

Imaging and Additional Tests:

In some cases, additional tests and imaging studies may be necessary to identify the cause of HPA
axis dysfunction. These include:

Magnetic Resonance Imaging (MRI): An MRI scan of the pituitary gland may be performed to detect
any structural abnormalities, such as pituitary tumors (adenomas) or other lesions.

CRH Stimulation MRI: In cases of ACTH-dependent Cushing's syndrome, a CRH stimulation test
combined with MRI imaging can help locate the source of ACTH production.

Genetic Testing: Genetic testing may be conducted in individuals suspected to have genetic causes of
HPA axis dysfunction, such as congenital adrenal hyperplasia or familial forms of Cushing's
syndrome.

Congenital Adrenal Hyperplasia (CAH):

Congenital adrenal hyperplasia (CAH) is a group of inherited disorders characterized by enzyme

deficiencies in the adrenal gland, leading to impaired cortisol synthesis and subsequent adrenal
hyperplasia. CAH is primarily caused by mutations in genes involved in steroid biosynthesis, resulting
in the disruption of cortisol production and alterations in other adrenal steroids.

Adrenal Steroid Biosynthesis:

Understanding the normal adrenal steroid biosynthesis pathway is crucial for comprehending the
biochemical basis of CAH. The pathway involves the conversion of cholesterol into various steroid
hormones:
Cholesterol: The precursor for all steroid hormones, including cortisol, aldosterone, and adrenal
androgens.

Enzymes: Multiple enzymes catalyze the conversion of cholesterol into different steroid hormones,
including 21-hydroxylase (CYP21A2), 11β-hydroxylase (CYP11B1), and 17α-hydroxylase (CYP17A1).

Types of CAH:
CAH encompasses several subtypes, each associated with a specific enzyme deficiency and varying
clinical manifestations:
 21-Hydroxylase Deficiency (Classic and Non-Classic CAH): This is the most common form of CAH,
accounting for about 90-95% of cases. It results from mutations in the CYP21A2 gene, leading to
impaired cortisol and aldosterone synthesis.
Classic CAH manifests with cortisol deficiency, excess adrenal androgen production, and salt-
wasting or virilization in affected infants. Non-classic CAH typically presents later in life with
milder symptoms, such as hirsutism and menstrual irregularities in females.
 11β-Hydroxylase Deficiency: This type of CAH is caused by mutations in the CYP11B1 gene,
leading to impaired cortisol and aldosterone synthesis. The excess production of
deoxycorticosterone results in hypertension and virilization in affected individuals.
 17α-Hydroxylase Deficiency: This rare form of CAH results from mutations in the CYP17A1 gene,
leading to impaired cortisol and sex steroid synthesis. Symptoms include hypertension, sexual
infantilism, and lack of secondary sexual characteristics.

Clinical Manifestations:
The clinical presentation of CAH varies depending on the subtype and the degree of enzyme
deficiency. Common features may include:
Salt-Wasting Crisis: In classic 21-hydroxylase deficiency, affected infants may experience life-
threatening salt-wasting crises due to mineralocorticoid deficiency. Symptoms include vomiting,
dehydration, electrolyte imbalance, and shock.

Virilization: Excessive androgen production in both males and females can lead to ambiguous
genitalia in female infants and early virilization in both sexes during childhood and adolescence.

Hormonal Imbalances: CAH disrupts the balance of adrenal steroids, leading to cortisol deficiency,
excess androgen production, and altered aldosterone levels. This can result in symptoms such as
growth impairment, hirsutism, menstrual irregularities, and infertility.

Diagnosis and Management:

Diagnosis of CAH involves biochemical testing, genetic analysis, and imaging studies. Key diagnostic
approaches include:
Measurement of Steroid Hormones: Assessing adrenal steroid hormone levels, such as 17-
hydroxyprogesterone (17-OHP), can help identify CAH. Elevated 17-OHP levels are typically seen in
classic 21-hydroxylase deficiency.

Genetic Testing: Genetic analysis is performed to identify specific mutations in the associated genes
(e.g., CYP21A2, CYP11B1, CYP17A1).
Imaging Studies: Imaging techniques such as ultrasound or MRI may be used to assess the adrenal
gland's size and structure.
Management of CAH typically involves hormone replacement therapy to address the deficiencies
and normalize hormone levels. The specific treatment approach depends on the subtype and
severity of CAH. Here are some general considerations:

Glucocorticoid Replacement: Synthetic glucocorticoids, such as hydrocortisone or prednisone, are

administered to replace cortisol deficiency and suppress excess androgen production. The dosage is
carefully adjusted to mimic the physiological cortisol rhythm.

Mineralocorticoid Replacement: In cases of salt-wasting CAH, mineralocorticoid replacement therapy

with medications like fludrocortisone is necessary to address aldosterone deficiency and maintain
electrolyte balance.

Androgen Suppression: In females with virilization, anti-androgen medications, such as

spironolactone or flutamide, may be used to reduce the effects of excess androgen production.

Lifelong Monitoring: Individuals with CAH require lifelong monitoring of hormone levels, growth, and
development. Regular follow-up visits with endocrinologists are essential to adjust medication
dosages and manage any potential complications.

Adrenal Insufficiency:

Adrenal insufficiency refers to the inadequate production or secretion of adrenal hormones,

primarily cortisol and, in some cases, aldosterone. It can be classified into primary (also known as
Addison's disease) and secondary adrenal insufficiency. Here are the key details to know for your
biochemistry exam:

Primary Adrenal Insufficiency (Addison's Disease):

Primary adrenal insufficiency occurs due to dysfunction or damage to the adrenal cortex itself. The
most common cause is autoimmune destruction of the adrenal glands. Other causes include
infections (such as tuberculosis or fungal infections), adrenal gland tumors, and genetic disorders
(such as congenital adrenal hyperplasia or adrenal hypoplasia). Key points to understand include:

Cortisol Deficiency: In primary adrenal insufficiency, cortisol production is significantly reduced. This
results in low cortisol levels, which can lead to symptoms such as fatigue, weakness, weight loss, and
hypoglycemia.

Aldosterone Deficiency: In some cases of primary adrenal insufficiency, aldosterone production is

also impaired. This leads to sodium and water loss and potassium retention, resulting in electrolyte
imbalances, dehydration, and low blood pressure.

Autoimmune Addison's Disease: The most common cause of primary adrenal insufficiency is
autoimmune destruction of the adrenal glands. Autoantibodies target and destroy the adrenal
cortex, leading to the loss of cortisol and aldosterone production.

Secondary Adrenal Insufficiency:

Secondary adrenal insufficiency occurs when there is a dysfunction or disruption in the
hypothalamic-pituitary-adrenal (HPA) axis, which controls the production and release of cortisol.
Causes of secondary adrenal insufficiency include:
Pituitary Dysfunction: Damage or dysfunction of the pituitary gland, such as tumors, infections, or
radiation therapy, can result in inadequate secretion of adrenocorticotropic hormone (ACTH), which
stimulates cortisol production.

Hypothalamic Dysfunction: Disorders affecting the hypothalamus, such as tumors or trauma, can
disrupt the release of corticotropin-releasing hormone (CRH), which stimulates ACTH production.

Exogenous Glucocorticoid Use: Prolonged use of exogenous glucocorticoid medications (e.g.,

prednisone) can suppress the HPA axis, leading to adrenal insufficiency. This is known as iatrogenic
adrenal insufficiency.

Clinical Manifestations:
The clinical presentation of adrenal insufficiency can vary depending on the extent of cortisol and
aldosterone deficiency. Common features include:
Fatigue and Weakness: Reduced cortisol levels can lead to persistent fatigue, weakness, and a
general feeling of malaise.

Weight Loss and Decreased Appetite: Individuals may experience unintentional weight loss and a
decreased appetite.

Hypotension: Low cortisol levels can cause low blood pressure, leading to symptoms such as
dizziness, fainting, and orthostatic hypotension.

Hyperpigmentation (in Primary Adrenal Insufficiency): In primary adrenal insufficiency, there may be
hyperpigmentation of the skin, particularly in areas exposed to sun or pressure points. This is due to
increased production of melanocyte-stimulating hormone (MSH) and precursor molecules.

Electrolyte Imbalances (in Primary Adrenal Insufficiency): In primary adrenal insufficiency with
aldosterone deficiency, electrolyte imbalances may occur, including hyponatremia (low sodium
levels) and hyperkalemia (high potassium levels).

 Diagnostic Evaluation:
Diagnosing adrenal insufficiency involves a combination of clinical evaluation, hormone testing, and
stimulation tests. Key diagnostic considerations include:
Measurement of Basal Hormone Levels: Measuring cortisol levels in the morning (8 am) is the initial
step. Low cortisol levels in the presence of clinical symptoms suggest adrenal insufficiency.

ACTH Stimulation Test: This test assesses the adrenal glands' response to synthetic ACTH
administration. Blood samples are taken before and after the administration of ACTH, and cortisol
levels are measured. In primary adrenal insufficiency, cortisol levels will remain low or show a
minimal increase, whereas in secondary adrenal insufficiency, cortisol levels will increase
appropriately.

CRH Stimulation Test: This test evaluates the integrity of the hypothalamus and pituitary gland.
Synthetic CRH is administered, and cortisol levels are measured. In primary adrenal insufficiency,
cortisol levels show a minimal or no increase, while in secondary adrenal insufficiency, cortisol levels
will increase.

Imaging Studies: Imaging techniques like CT scan or MRI may be performed to evaluate the structure
and function of the adrenal glands and identify any abnormalities.

Treatment:
The treatment of adrenal insufficiency involves hormone replacement therapy to restore and
maintain adequate cortisol and aldosterone levels. Key aspects of treatment include:
Glucocorticoid Replacement: Oral administration of synthetic glucocorticoids, such as hydrocortisone
or prednisone, is the mainstay of treatment for cortisol deficiency. The dosage is adjusted to mimic
the normal diurnal cortisol rhythm.

Mineralocorticoid Replacement: In cases of primary adrenal insufficiency with aldosterone

deficiency, mineralocorticoid replacement therapy with medications like fludrocortisone is necessary
to maintain electrolyte balance.

Stress Dosing: During times of illness, surgery, or other stressful situations, the glucocorticoid dosage
may need to be increased to provide adequate cortisol coverage.

Patient Education: Individuals with adrenal insufficiency should be educated about the signs and
symptoms of adrenal crisis, which can occur in situations of stress or if medication adjustments are
not made appropriately. They should carry an emergency injection of hydrocortisone and be trained
in its administration.
Adrenal cortex hypofunction, also known as adrenal cortex insufficiency or adrenal cortex
dysfunction, refers to a condition in which the adrenal cortex fails to produce sufficient amounts of
steroid hormones, including cortisol and aldosterone.

 Decreased Cortisol Levels: Adrenal cortex hypofunction leads to reduced cortisol production.
Cortisol is a glucocorticoid hormone involved in regulating metabolism, immune response,
and stress response. Biochemically, adrenal cortex hypofunction is characterized by low
levels of cortisol in the blood. This can be measured through blood tests such as the cortisol
basal level test or the ACTH stimulation test.
 Decreased Aldosterone Levels: Aldosterone is a mineralocorticoid hormone produced by the
adrenal cortex that plays a crucial role in regulating electrolyte and fluid balance in the body.
In adrenal cortex hypofunction, the production of aldosterone is impaired. As a result, there
is a decrease in aldosterone levels, leading to an imbalance of electrolytes, particularly
sodium and potassium. This can be assessed by measuring the levels of aldosterone in the
blood or through a renin-aldosterone ratio test.
 Elevated Adrenocorticotropic Hormone (ACTH) Levels: ACTH is a hormone produced by the
pituitary gland that stimulates the production of cortisol in the adrenal cortex. In adrenal
cortex hypofunction, the decreased cortisol levels lead to an increase in ACTH secretion. This
compensatory mechanism is aimed at stimulating the adrenal cortex to produce more
cortisol. Therefore, biochemically, adrenal cortex hypofunction is associated with elevated
levels of ACTH. This can be measured through blood tests, such as the ACTH stimulation test
or the measurement of plasma ACTH levels.
 Impaired Steroid Hormone Synthesis: Adrenal cortex hypofunction is typically associated
with a deficiency in multiple steroid hormones produced by the adrenal cortex, including
cortisol, aldosterone, and adrenal androgens. This is due to the underlying dysfunction or
damage to the adrenal cortex. The impaired synthesis of these hormones leads to their
decreased levels in the blood.
 Altered Metabolism: Cortisol, as a major glucocorticoid hormone, plays a critical role in
carbohydrate, protein, and lipid metabolism. In adrenal cortex hypofunction, the reduced
cortisol levels can result in metabolic disturbances. This includes impaired glucose
metabolism, decreased gluconeogenesis, altered protein synthesis, and abnormal lipid
metabolism. These metabolic changes can be assessed through various biochemical markers
and metabolic tests.

Relative adrenal insufficiency, also known as relative adrenal insufficiency syndrome or critical
illness-related corticosteroid insufficiency, is a condition characterized by inadequate cortisol
production or responsiveness during times of physiological stress.
  Definition and Pathophysiology:

Relative adrenal insufficiency occurs in critically ill patients who have an inadequate cortisol
response to stress despite having intact adrenal glands. The underlying pathophysiology involves
dysregulation of the hypothalamic-pituitary-adrenal (HPA) axis and impaired cortisol production. It is
believed to be caused by alterations in the feedback mechanisms and decreased adrenal sensitivity
to adrenocorticotropic hormone (ACTH).

Stress-Induced Cortisol Deficiency:

During times of stress, the demand for cortisol increases as part of the body's physiological response.
In patients with relative adrenal insufficiency, the cortisol response is inadequate, leading to a
relative deficiency. This can result in hemodynamic instability, impaired glucose metabolism, and
increased susceptibility to infections.

Clinical Features:
The clinical features of relative adrenal insufficiency may overlap with those of absolute adrenal
insufficiency, but the underlying pathophysiology is different. Common clinical manifestations
include:

Hemodynamic Instability: Patients may exhibit refractory hypotension and inadequate response to
fluid resuscitation, vasopressors, or inotropic agents.

Metabolic Disturbances: Impaired glucose metabolism can manifest as hyperglycemia or insulin

resistance. Electrolyte imbalances, such as hyponatremia or hyperkalemia, may also occur.

Immune Dysfunction: Patients with relative adrenal insufficiency may have an increased risk of
infections and impaired immune response.

Diagnosis:
The diagnosis of relative adrenal insufficiency is challenging and often based on clinical suspicion in
critically ill patients. There are no definitive laboratory tests available to confirm the diagnosis.
However, the following tests may aid in the assessment:
ACTH Stimulation Test: This test evaluates the adrenal gland's response to synthetic ACTH
administration. A blunted cortisol response suggests impaired adrenal function, indicating relative
adrenal insufficiency.

Cortisol Measurement: Serial cortisol measurements may be performed to assess the cortisol levels
in response to stress. Low cortisol levels or an inadequate increase in cortisol despite stress support
the diagnosis.
Treatment:
The management of relative adrenal insufficiency focuses on providing appropriate stress-dose
glucocorticoid therapy to restore cortisol levels during times of physiological stress. Hydrocortisone
is commonly used due to its glucocorticoid and mineralocorticoid properties. The dosage and
duration of treatment depend on the severity of illness and individual patient factors.

Prognosis:
Relative adrenal insufficiency is associated with increased morbidity and mortality in critically ill
patients. Early recognition and appropriate management are essential for improving outcomes.

 Causes of Cortisol Excess:

 Cortisol excess can be caused by various factors:
- Adrenal Tumors: Adrenal tumors, such as adrenal adenomas or adrenal carcinomas, can lead
to increased cortisol production and secretion.

- Pituitary Adenomas: Pituitary adenomas, specifically adrenocorticotropic hormone (ACTH)-

secreting tumors (Cushing's disease), can cause excessive cortisol production by stimulating
the adrenal glands.

- Ectopic ACTH Production: Non-pituitary tumors, such as lung tumors or carcinoid tumors,
can produce ACTH, leading to increased cortisol production.

- Exogenous Glucocorticoid Use: Prolonged administration of exogenous glucocorticoids, such

as prednisone or dexamethasone, for therapeutic purposes can result in cortisol excess.

Clinical Features:
Excess cortisol has widespread effects on various body systems, resulting in a wide range of clinical
manifestations. Common clinical features of cortisol excess include:
Weight Gain and Central Obesity: Patients may experience weight gain, particularly in the abdominal
region (central obesity), with a characteristic "moon face" and "buffalo hump" appearance.

Glucose Metabolism Abnormalities: Cortisol promotes gluconeogenesis, leading to increased blood

glucose levels. This can manifest as diabetes mellitus or impaired glucose tolerance.

Hypertension: Cortisol excess can cause elevated blood pressure due to increased vascular
responsiveness and sodium retention.

Osteoporosis: Increased cortisol levels can lead to bone mineral density loss, resulting in
osteoporosis and an increased risk of fractures.
Muscle Weakness and Atrophy: Cortisol excess can cause muscle wasting and weakness, leading to
decreased muscle mass and strength.

Skin Changes: Patients may exhibit thinning of the skin, easy bruising, and delayed wound healing.

Biochemical Markers:
Biochemical evaluation is essential for diagnosing cortisol excess. The following tests can help assess
cortisol levels and underlying causes:
Urinary Free Cortisol: A 24-hour urine collection can measure the excretion of cortisol. Elevated
levels suggest excessive cortisol production.

Midnight Salivary Cortisol: Cortisol levels are typically lower at midnight. Elevated salivary cortisol
levels during this time can indicate cortisol excess.

Overnight Low-Dose Dexamethasone Suppression Test: This test involves administering a low dose
of dexamethasone at night and measuring cortisol levels the next morning. Failure to suppress
cortisol production indicates hypercortisolism.

ACTH Measurement: Measuring ACTH levels can help differentiate between ACTH-dependent and
ACTH-independent causes of cortisol excess.

Imaging Studies: Imaging techniques, such as computed tomography (CT) or magnetic resonance
imaging (MRI), can be used to identify adrenal or pituitary tumors.

Treatment:
The treatment of cortisol excess depends on the underlying cause. It may involve:
Surgery: Surgical removal of adrenal tumors or pituitary adenomas is often the primary treatment
option.

Medications: In cases where surgery is not feasible or effective, medications that inhibit cortisol
synthesis or block its action, such as ketoconazole or mifepristone, may be prescribed.

Discontinuation of Exogenous Glucocorticoids: If cortisol excess is due to exogenous glucocorticoid

use, tapering and discontinuation of the medication may be necessary under medical supervision.

Androgens and their Functions:

Androgens are a group of hormones that include testosterone, dihydrotestosterone (DHT), and
dehydroepiandrosterone (DHEA). They play essential roles in the development and maintenance of
male sexual characteristics and have various effects on metabolism, reproduction, and other
physiological processes.
Causes of Androgen Excess:
Androgen excess can have different underlying causes:

 Polycystic Ovary Syndrome (PCOS): PCOS is the most common cause of androgen excess in
women. It is characterized by hormonal imbalances, ovarian dysfunction, and the formation
of small cysts on the ovaries.

 Adrenal Disorders: Certain adrenal gland disorders, such as congenital adrenal hyperplasia
(CAH) and adrenal tumors, can result in excessive androgen production.

 Medications: Some medications, such as anabolic steroids and certain hormone replacement
therapies, can lead to increased androgen levels.

Clinical Features:
Androgen excess can cause various clinical manifestations, which may vary depending on the
underlying cause and gender. Common clinical features of androgen excess include:
 Hirsutism: Excessive hair growth in a male pattern, such as on the face, chest, and back, in
women.

 Acne: Severe acne or acne that does not respond to conventional treatment can be a sign of
androgen excess.

 Menstrual Irregularities: Women with androgen excess may experience irregular menstrual
cycles, including absent periods or heavy and prolonged bleeding.

 Male Pattern Baldness: Thinning or loss of hair on the scalp, similar to male pattern baldness,
can occur in women with androgen excess.

 Virilization: In severe cases, androgen excess can lead to virilization, which involves the
development of male characteristics in females. This may include deepening of the voice,
enlargement of the clitoris, and increased muscle mass.

 Infertility: Androgen excess can disrupt normal ovulation and impair fertility in women.

Biochemical Evaluation:
Biochemical testing is important to assess androgen levels and identify the underlying cause of
excess androgen production. Key tests include:
 Testosterone Levels: Measuring total testosterone and free testosterone levels in the blood
can help evaluate androgen excess. Elevated levels suggest androgen overproduction.
  DHEA-S Levels: Dehydroepiandrosterone sulfate (DHEA-S) is an androgen precursor hormone
produced by the adrenal glands. Elevated levels may indicate adrenal androgen excess.
 17-Hydroxyprogesterone Levels: Measuring 17-hydroxyprogesterone levels can help identify
congenital adrenal hyperplasia (CAH) as a cause of androgen excess.

Treatment:
The treatment of androgen excess depends on the underlying cause and the symptoms experienced
by the individual. Treatment options may include:
Lifestyle Modifications: Weight loss, exercise, and dietary changes can help improve androgen levels
and symptoms, particularly in cases of PCOS.

Medications: Hormonal contraceptives, such as combined oral contraceptives or anti-androgen

medications, can be prescribed to regulate hormone levels and manage symptoms.

Anti-Androgen Therapy: In cases of severe androgen excess, medications that directly block
androgen receptors or inhibit androgen production may be used.
TIROIDJA  Thyroid Gland and Hormones:
 Thyroxine T4 The thyroid gland is a butterfly-shaped gland located in the neck. It produces two primary hormones:
 TRI-JODthyronin  Triiodothyronine (T3): The active form of thyroid hormone, T3 plays a crucial role in
 [t4 ne plazme]=100nmol/L regulating metabolism, growth, and development.
 LIVER AND KIDNEY DEIONTE t4 to produce 2/3
of circulating t3  Thyroxine (T4): T4 is the inactive form of thyroid hormone. It is converted into T3 in
 T4 can be metabolised to inveresed t3 peripheral tissues.
 Congenital hypothyroidism
 Thyroxine binding globulin Thyroid-Stimulating Hormone (TSH):
 Albumin TSH, also known as thyrotropin, is a hormone released by the pituitary gland. It stimulates the
 Transthyretin production and release of thyroid hormones from the thyroid gland. TSH secretion is regulated by a
 Thyroid function test negative feedback loop, meaning that high levels of thyroid hormones suppress TSH production.
 Rregullimi I sekretimit te hormonit te tiroides
 Testet e funksionit te tiroides: Thyroid Hormone Synthesis:
TSH Thyroid hormone synthesis involves the following steps:
T4 total/t4 I lire
t3 total/t3 I lire 1. Iodide Uptake: The thyroid gland actively transports iodide from the blood into thyroid
antitrupat follicular cells.
 Struma 2. Thyroglobulin Synthesis: Thyroglobulin, a protein produced by thyroid follicular cells, serves
 Barnat qe ndokojne ne testet funksionale te as a scaffold for thyroid hormone synthesis.
tiroides 3. Iodination: Iodide is oxidized to iodine and attached to tyrosine residues within
 Crregullime autoimune te tiroides thyroglobulin, forming monoiodotyrosine (MIT) and diiodotyrosine (DIT).
 Hipotiroidizmi 4. Coupling: MIT and DIT molecules combine to form T3 (DIT + DIT) and T4 (MIT + DIT).
 Definition 5. Storage and Release: Thyroglobulin, containing T3 and T4, is stored in thyroid follicles. When
 Karakteristika klinike stimulated by TSH, the follicles release thyroglobulin into the bloodstream, where T3 and T4
pse shtim ne peshe are cleaved from thyroglobulin and become available for action.
pse te ngjirur zeri
Thyroid Hormone Actions:
 Shkaqet e hipo Thyroid hormones have broad effects on various tissues and organs, influencing metabolism, growth,
 Diagnoza e hipo and development. Key actions include:
 Trajtimi I hipo  Metabolic Regulation: Thyroid hormones increase basal metabolic rate, regulate energy
 Skrinimi neonatal per hipo production and expenditure, and affect carbohydrate, lipid, and protein metabolism.
 HIPERTIROIDIZMI:  Development and Growth: Adequate thyroid hormone levels are essential for proper
 Struma development and growth, particularly in the central nervous system, skeletal system, and
 Patofiziologjia e tiroides reproductive system.
 Thyrotoxicosis  Cardiovascular Effects: Thyroid hormones affect heart rate, contractility, and blood vessel
 Hyperthyroidism tone, influencing cardiovascular function.
 Karakteristikat klinike  Thermoregulation: Thyroid hormones play a role in maintaining body temperature by
 Shkaktaret e hypertiroidizmit regulating heat production and heat dissipation.
graves
gusha toksike multinodulare
adenome solitare toksike
tiroiditis
jodi dhe barna me permbajtje jodi qe merren ne
menyre ekzogjene Regulation of Thyroid Function:
marrje tepers t3 t4  Thyroid function is regulated by a complex feedback mechanism involving the hypothalamus,
 Diagnoza pituitary gland, and thyroid gland:
 Faktore fiziologjik qe qojne ne rritje te t4  Hypothalamic-Pituitary-Thyroid Axis: The hypothalamus releases thyrotropin-releasing
 Trajtimi hormone (TRH), which stimulates the pituitary gland to secrete TSH. TSH, in turn, stimulates
 Semundja e syrit tiroid the thyroid gland to produce and release T3 and T4.
 Negative Feedback Loop: Elevated levels of T3 and T4 inhibit the release of TRH and TSH,
maintaining thyroid hormone levels within a narrow range.

Clinical Conditions:
Thyroid dysfunction can lead to various clinical conditions:
 Hypothyroidism: Insufficient production of thyroid hormones, resulting in symptoms such as
fatigue, weight gain, cold intolerance, and sluggishness.
 Hyperthyroidism: Excessive production of thyroid hormones, causing symptoms like weight
loss, increased heart rate, heat intolerance, and anxiety.
 Thyroiditis: Inflammation of the thyroid gland, which can be caused by autoimmune
conditions, viral infections such as Hashimoto's thyroiditis or viral infections such as
subacute thyroiditis.
 Goiter: Enlargement of the thyroid gland due to various causes, including iodine deficiency,
Graves' disease (an autoimmune disorder), or nodular goiter (benign growths in the thyroid).
  Thyroid Cancer: Malignant growths in the thyroid gland, which can be classified into different
types such as papillary carcinoma, follicular carcinoma, medullary carcinoma, and anaplastic
carcinoma.

Diagnostic Tests:
Various tests can assess thyroid function and diagnose thyroid disorders:
 Thyroid Function Tests: These include measurement of serum levels of TSH, T3, and T4 to
evaluate thyroid hormone levels.

 Thyroid Antibody Tests: These tests help identify autoimmune conditions such as
Hashimoto's thyroiditis or Graves' disease by detecting specific antibodies against thyroid
tissue.

 Thyroid Imaging: Imaging techniques such as ultrasound, thyroid scintigraphy, or thyroid

biopsy may be used to visualize the structure and function of the thyroid gland.

 Fine-Needle Aspiration (FNA): FNA biopsy is performed to evaluate suspicious thyroid

nodules for malignancy.

Treatment:
Treatment for thyroid disorders depends on the specific condition:
 Hypothyroidism: The standard treatment involves hormone replacement therapy with
synthetic thyroid hormone (levothyroxine) to restore thyroid hormone levels.
 Hyperthyroidism: Treatment options may include medications to block thyroid hormone
synthesis or release, radioactive iodine therapy, or surgical removal of the thyroid gland.
 Thyroid Cancer: Treatment may involve surgery, radioactive iodine therapy, and sometimes
external beam radiation therapy or targeted therapy, depending on the type and stage of
cancer.
 Goiter: Treatment depends on the underlying cause, and it may involve medication, surgery,
or iodine supplementation.

Thyroid Hormone Binding Proteins:

Three main plasma proteins bind to thyroid hormones:
 Thyroxine-binding Globulin (TBG): TBG is the most abundant thyroid hormone-binding
protein. It has the highest affinity for T4 and also binds to T3. TBG levels can be influenced by
various factors, such as estrogen, pregnancy, and liver function.

 Transthyretin (TTR): TTR, formerly known as thyroxine-binding prealbumin (TBPA), binds to

 both T4 and T3. It is synthesized in the liver and plays a role in carrying thyroid hormones in
the bloodstream.

 Albumin: Albumin is a non-specific plasma protein that also binds to thyroid hormones.
Although it has a lower affinity for T4 and T3 compared to TBG and TTR, it contributes to the
overall transport of thyroid hormones.

Importance of Binding Proteins:

The binding proteins serve several crucial functions in the transport of thyroid hormones:
 Hormone Storage and Stability: Binding proteins help to store and protect thyroid hormones
in the bloodstream, preventing their rapid degradation and clearance.
 Hormone Solubility: Thyroid hormones are lipophilic (fat-soluble) molecules, but they need
to be transported in the aqueous environment of the blood. Binding to plasma proteins
increases their solubility and allows efficient transport.
 Hormone Release and Tissue Uptake: The reversible binding of thyroid hormones to plasma
proteins ensures a steady supply of hormones for target tissues. Hormones bound to
proteins can dissociate to become free (unbound) and enter the target cells, where they
exert their biological effects.

 Free Hormones:
A small fraction of thyroid hormones remains unbound and circulates in the bloodstream as free
(unbound) hormones. Free T4 (fT4) and free T3 (fT3) are the biologically active forms of thyroid
hormones and are readily available to enter target cells and exert their effects.

 Total and Free Hormone Levels:

When measuring thyroid hormone levels, it is important to consider both total and free hormone
levels:

 Total Hormone Levels: Total T4 (TT4) and total T3 (TT3) represent the combined levels of
hormone bound to plasma proteins and the small fraction of free hormone.
 Free Hormone Levels: Free T4 (fT4) and free T3 (fT3) represent the biologically active,
unbound fraction of hormone available for cellular uptake and metabolism.

Clinical Significance:
The measurement of total and free thyroid hormone levels is clinically relevant:
Total Hormone Levels: Total hormone levels provide an overall assessment of thyroid hormone
production and binding capacity but may be influenced by changes in binding protein levels.

Free Hormone Levels: Free hormone levels are more accurate indicators of thyroid function as they
directly reflect the biologically active fraction of hormones. Measuring free T4 and free T3 levels is
important for diagnosing thyroid disorders, monitoring treatment efficacy, and evaluating thyroid
function in specific clinical situations.

Thyroid functioning tests are essential for assessing the health and activity of the thyroid gland.
Here are the important details you should know for your biochemistry exam:

 Thyroid-Stimulating Hormone (TSH) Test:

TSH is produced by the pituitary gland and stimulates the thyroid gland to produce and release
thyroid hormones. The TSH test is the most common initial test used to evaluate thyroid function.
Key points to know include:
 TSH Levels: Increased TSH levels indicate primary hypothyroidism (thyroid gland
dysfunction), while decreased TSH levels suggest hyperthyroidism (excessive thyroid
hormone production).
 Reference Range: The reference range for TSH levels varies, but typically falls between 0.4
and 4.0 milli-international units per liter (mIU/L). However, it may vary depending on the
laboratory.

 Thyroid Hormone Levels:

Measuring the levels of thyroid hormones, thyroxine (T4) and triiodothyronine (T3), provides
valuable information about thyroid function. Important details to know include:
 Total T4 (TT4) and Total T3 (TT3): These tests measure the overall concentration of T4 and T3
in the bloodstream, including both protein-bound and free hormone.

 Free T4 (fT4) and Free T3 (fT3): These tests specifically measure the unbound, biologically
active fraction of T4 and T3. Free hormone levels reflect the hormones available for cellular
uptake and metabolism.

 Reference Ranges: The reference ranges for total and free hormone levels may vary
depending on the laboratory and the specific assay used.

Thyroid Antibody Tests:

Autoimmune thyroid diseases, such as Hashimoto's thyroiditis and Graves' disease, are common
causes of thyroid dysfunction. Thyroid antibody tests help in diagnosing these conditions. Key points
to know include:
 Antithyroid Peroxidase Antibodies (TPOAb): TPOAb is present in autoimmune thyroiditis and
is commonly used as a marker for Hashimoto's thyroiditis.
 Thyroglobulin Antibodies (TgAb): TgAb can be elevated in both Hashimoto's thyroiditis and
Graves' disease.
Thyroid Ultrasound:
Thyroid ultrasound imaging provides detailed visualization of the thyroid gland and can detect
structural abnormalities such as nodules, cysts, or enlargement (goiter). Important details to know
include:
 Size and Morphology: Ultrasound can determine the size, shape, and texture of the thyroid
gland.
 Nodule Evaluation: Ultrasound can assess the characteristics of thyroid nodules, such as size,
shape, echogenicity, vascularity, and presence of calcifications.
 Fine-Needle Aspiration (FNA) Biopsy: If a nodule appears suspicious for malignancy, an FNA
biopsy may be performed to obtain a tissue sample for further evaluation.

Radioactive Iodine Uptake (RAIU) Test:

The RAIU test assesses the functioning of the thyroid gland by measuring its ability to take up and
concentrate radioactive iodine. Key points to know include:
 Iodine Uptake: The thyroid gland normally takes up iodine to produce thyroid hormones. A
low RAIU suggests decreased thyroid function, while a high RAIU indicates increased activity.
 Graves' Disease: In Graves' disease, the RAIU test typically shows increased uptake due to
excessive production of thyroid hormones.

Thyroid Scan:
A thyroid scan uses radioactive iodine or technetium to provide detailed images of the thyroid gland.
Key points to know include:
Differential Diagnosis: A thyroid scan can help differentiate between different types of thyroid
nodules or evaluate the functional status of the thyroid gland.

Cold and Hot Nodules: A thyroid scan can identify "cold" or "hot" nodules. Cold nodules have
decreased or no uptake of the radioactive substance and are more likely to be malignant. Hot
nodules have increased uptake and are usually benign.

Thyroid Stimulating Immunoglobulin (TSI) Test:

TSI is a specific antibody that stimulates the thyroid gland and is associated with Graves' disease. Key
points to know include:
Diagnostic Marker: TSI is measured to confirm the diagnosis of Graves' disease, particularly in cases
where TSH receptor antibodies (TRAb) are not conclusive.

Functional Assessment: TSI levels correlate with the activity and severity of Graves' disease.

Thyroid Biopsy:
In cases of suspicious thyroid nodules or suspected thyroid cancer, a biopsy may be performed to
obtain a tissue sample for microscopic examination. Key points to know include:
Fine-Needle Aspiration (FNA): FNA biopsy involves using a thin needle to extract cells from the
thyroid nodule. The sample is then analyzed by a pathologist to determine if the nodule is benign or
malignant.

Cytopathological Evaluation: The biopsy sample is examined for cellular characteristics that indicate
benignity or malignancy, such as cell arrangement, nuclear features, and presence of abnormal cells.

Medications that Increase Thyroid Hormone Levels:

Thyroid Hormone Replacement Therapy: Exogenous administration of thyroid hormones, such as

levothyroxine, is commonly used to treat hypothyroidism. Taking thyroid hormone replacement
therapy can lead to elevated levels of T4 and T3 in the blood, potentially causing false high results in
thyroid hormone tests.

Medications that Decrease Thyroid Hormone Levels:

Antithyroid Drugs: Medications like methimazole and propylthiouracil are used to treat
hyperthyroidism by inhibiting the production of thyroid hormones. These drugs can lead to
decreased levels of T4 and T3, resulting in false low results in thyroid hormone tests.

Medications that Interfere with TSH Measurements:

Dopamine Agonists: Dopamine agonists, such as bromocriptine and cabergoline, used in the
treatment of hyperprolactinemia and Parkinson's disease, can suppress TSH secretion. This can lead
to lower TSH levels, potentially masking underlying thyroid dysfunction.

Glucocorticoids: High doses of glucocorticoids, such as prednisone or dexamethasone, can suppress

TSH secretion, resulting in lower TSH levels.

Medications that Affect Thyroid Antibody Tests:

Glucocorticoids: Glucocorticoid therapy can suppress the production of thyroid antibodies,
potentially leading to false negative results in antibody tests, such as antithyroid peroxidase
antibodies (TPOAb) and thyroglobulin antibodies (TgAb).

Contrast Agents:
Iodinated Contrast Agents: The administration of iodinated contrast agents for imaging procedures,
such as CT scans, can transiently alter thyroid function tests. These agents contain iodine, which can
interfere with thyroid hormone synthesis and release, leading to changes in thyroid hormone levels.

Other Medications:
 Amiodarone: Amiodarone, an antiarrhythmic medication, contains high amounts of iodine
and can cause both hypothyroidism and hyperthyroidism. It can lead to abnormal thyroid
 hormone levels and TSH suppression.

 Lithium: Lithium, commonly used in the treatment of bipolar disorder, can interfere with
thyroid function by inhibiting thyroid hormone synthesis and release. It can lead to
hypothyroidism and elevated TSH levels.

Goiter refers to the abnormal enlargement of the thyroid gland, resulting in a visible swelling in the
neck. Here are the important details you should know about goiter for your biochemistry exam:

Definition and Classification:

 Goiter is a non-specific term used to describe the enlargement of the thyroid gland.
It can be classified into two main types:
a. Diffuse Goiter: The entire thyroid gland is enlarged uniformly.
b. Nodular Goiter: The thyroid gland has discrete nodules or lumps.

 Causes and Pathophysiology:

 Iodine Deficiency: The most common cause of goiter worldwide is iodine deficiency.
Inadequate iodine intake impairs thyroid hormone synthesis, leading to increased
production of thyroid-stimulating hormone (TSH) by the pituitary gland. The chronic
stimulation of the thyroid gland by TSH results in its enlargement.
 Hashimoto's Thyroiditis: An autoimmune condition where the body's immune system attacks
the thyroid gland, leading to inflammation and goiter formation.
 Graves' Disease: An autoimmune disorder characterized by overactive thyroid function. The
excessive production of thyroid hormones stimulates thyroid gland growth, resulting in a
goiter.
 Multinodular Goiter: The presence of multiple nodules in the thyroid gland, leading to its
enlargement.
 Thyroid Cancer: In some cases, goiter may be caused by thyroid cancer, where the tumor
growth results in glandular enlargement.
Clinical Features:
 Visible Neck Swelling: Goiter can cause a visible swelling in the neck, which may be
symmetrical or lopsided depending on the type and cause of goiter.
 Compression Symptoms: In severe cases, goiter can compress adjacent structures, such as
the trachea (windpipe) or esophagus, leading to difficulty breathing, swallowing, or
hoarseness.
 Symptoms of Thyroid Dysfunction: Depending on the underlying cause, goiter may be
associated with symptoms of hyperthyroidism (e.g., weight loss, palpitations, heat
intolerance) or hypothyroidism (e.g., fatigue, weight gain, cold intolerance).
Diagnosis:
 Physical Examination: A thorough clinical examination is performed to assess the size,
 consistency, and symmetry of the thyroid gland.
 Thyroid Function Tests: Blood tests are conducted to measure thyroid hormone levels (T3,
T4) and thyroid-stimulating hormone (TSH). Abnormalities in hormone levels can provide
insights into the underlying cause of goiter.
 Thyroid Ultrasound: Imaging with ultrasound helps evaluate the size, structure, and
composition of the thyroid gland and detect any nodules.
 Fine-Needle Aspiration (FNA) Biopsy: If nodules are present, FNA biopsy may be performed
to determine if they are benign or malignant.
Treatment:
 Iodine Supplementation: In regions with iodine deficiency, providing adequate iodine
through iodized salt or supplements can help reduce the size of the goiter.
 Medications: If the goiter is associated with hyperthyroidism, medications such as
antithyroid drugs or beta-blockers may be prescribed to control thyroid hormone levels and
alleviate symptoms.
 Surgery: In some cases, surgical removal of all or part of the thyroid gland (thyroidectomy)
may be necessary, especially if the goiter causes significant compression or if there is
suspicion of thyroid cancer.

Autoimmune diseases of the thyroid are a group of conditions characterized by abnormal immune
responses that target the thyroid gland. Here are the important details you should know about
autoimmune diseases of the thyroid for your biochemistry exam:
1. Hashimoto's Thyroiditis:
 Definition: Hashimoto's thyroiditis is the most common autoimmune thyroid disease, leading
to chronic inflammation and destruction of the thyroid gland.
 Pathophysiology: The immune system produces antibodies, such as antithyroid peroxidase
antibodies (TPOAb) and antithyroglobulin antibodies (TgAb), which attack and damage the
thyroid tissue. This results in impaired thyroid hormone synthesis and gradual loss of thyroid
function.
 Clinical Features: Hashimoto's thyroiditis is typically characterized by an enlarged thyroid
gland (goiter) and may present with symptoms of hypothyroidism, such as fatigue, weight
gain, cold intolerance, and depression.
2. Graves' Disease:
 Definition: Graves' disease is an autoimmune disorder characterized by overactive thyroid
function (hyperthyroidism).
 Pathophysiology: Autoantibodies, known as thyroid-stimulating immunoglobulins (TSI) or
thyroid-stimulating hormone receptor antibodies (TRAb), bind to and activate the thyroid-
stimulating hormone (TSH) receptors on thyroid cells. This leads to excessive production of
thyroid hormones (T3 and T4) and enlargement of the thyroid gland.
 Clinical Features: Graves' disease is associated with symptoms of hyperthyroidism, including
 weight loss, rapid heartbeat, anxiety, tremors, heat intolerance, and increased sweating. It
may also present with Graves' ophthalmopathy, characterized by eye-related symptoms like
bulging eyes, double vision, and eye irritation.
3. Postpartum Thyroiditis:
 Definition: Postpartum thyroiditis is an autoimmune condition that occurs within the first
year after childbirth.
 Pathophysiology: The immune system attacks the thyroid gland, leading to inflammation and
temporary disruption of thyroid hormone production. This may cause transient
hyperthyroidism, followed by a phase of hypothyroidism, and eventually, most women
recover normal thyroid function.
 Clinical Features: Postpartum thyroiditis may present with symptoms of hyperthyroidism
during the early phase, followed by symptoms of hypothyroidism. These symptoms can
include fatigue, weight gain, hair loss, mood changes, and difficulty concentrating.
4. Autoimmune Thyroid Diseases and Pregnancy:
 Women with autoimmune thyroid diseases, such as Hashimoto's thyroiditis or Graves'
disease, may experience changes in their thyroid hormone levels during pregnancy.
 During pregnancy, the immune system undergoes adaptations, which can influence the
course of autoimmune thyroid diseases.
 It is important for pregnant women with autoimmune thyroid diseases to be closely
monitored and receive appropriate medical care to ensure optimal thyroid function for the
health of both the mother and the developing fetus.
Hypothyroidism is a condition characterized by an underactive thyroid gland, leading to insufficient
production of thyroid hormones. Here are the important details you should know about
hypothyroidism for your biochemistry exam:
Clinical Features:
 Fatigue and Weakness: Hypothyroidism can cause extreme fatigue and weakness, leading to
decreased energy levels and reduced physical and mental activity.
 Weight Gain: Individuals with hypothyroidism may experience unexplained weight gain or
have difficulty losing weight.
 Cold Intolerance: Hypothyroidism can disrupt the body's thermoregulation, causing
increased sensitivity to cold temperatures.
 Constipation: Slowed metabolism and decreased intestinal motility can lead to constipation.
 Dry Skin and Hair: Hypothyroidism can result in dry skin, brittle nails, and thinning or coarse
hair.
 Depression and Cognitive Impairment: Thyroid hormones play a crucial role in mood
regulation and cognitive function, so hypothyroidism may be associated with depression,
forgetfulness, and impaired concentration.
 Menstrual Irregularities: Women with hypothyroidism may experience irregular or heavy
menstrual periods.
 Bradycardia: Hypothyroidism can cause a slower heart rate, known as bradycardia.
  Goiter (in some cases): Hashimoto's thyroiditis, an autoimmune cause of hypothyroidism,
can lead to the enlargement of the thyroid gland.
Causes of Hypothyroidism:
 Hashimoto's Thyroiditis: An autoimmune condition where the immune system attacks the
thyroid gland, resulting in chronic inflammation and damage.
 Iodine Deficiency: Inadequate intake of iodine, an essential nutrient for thyroid hormone
synthesis, can lead to hypothyroidism.
 Thyroidectomy or Radioactive Iodine Therapy: Surgical removal of the thyroid gland or
treatment with radioactive iodine for thyroid cancer or hyperthyroidism can result in
hypothyroidism.
 Medications: Certain medications, such as lithium (used for bipolar disorder) or amiodarone
(an antiarrhythmic drug), can interfere with thyroid function and cause hypothyroidism.
 Pituitary or Hypothalamic Dysfunction: Disorders affecting the pituitary gland or
hypothalamus, such as tumors or radiation therapy, can disrupt the production or release of
thyroid-stimulating hormone (TSH) or thyrotropin-releasing hormone (TRH), leading to
hypothyroidism.
Diagnosis of Hypothyroidism:
 Thyroid Function Tests: Measurement of thyroid-stimulating hormone (TSH), free thyroxine
(T4), and sometimes triiodothyronine (T3) levels helps assess thyroid function.
 Elevated TSH and low T4 levels are consistent with primary hypothyroidism.
 Antibody Tests: In cases of suspected autoimmune hypothyroidism (Hashimoto's thyroiditis),
antithyroid peroxidase antibodies (TPOAb) and antithyroglobulin antibodies (TgAb) can be
measured.
Treatment of Hypothyroidism:
 Synthetic Thyroid Hormone Replacement: The standard treatment for hypothyroidism
involves lifelong administration of synthetic thyroid hormone (levothyroxine) to normalize
thyroid hormone levels.
 The dosage is adjusted based on clinical response and thyroid function tests.
 Regular monitoring of thyroid function is important to ensure optimal hormone
replacement.
NEONATAL SCREENING
1. Purpose:
 Neonatal screening for hypothyroidism is performed to identify infants born with congenital
hypothyroidism, a condition where the thyroid gland fails to produce an adequate amount of
thyroid hormones.
 Early detection and treatment of congenital hypothyroidism are crucial to prevent severe
intellectual and developmental disabilities that can occur if the condition is left untreated.
2. Screening Method:
 Most neonatal screening programs use a blood spot test, often referred to as the "heel
prick" or "Guthrie" test.
  The test involves collecting a small blood sample by pricking the baby's heel and applying the
blood onto filter paper.
 The blood spot is then analyzed to measure the levels of thyroid-stimulating hormone (TSH).
 Elevated TSH levels indicate a potential thyroid dysfunction and the need for further
diagnostic evaluation.
3. Timing of Screening:
 Neonatal screening for hypothyroidism is typically performed between 24 and 48 hours after
birth.
 The screening is timed to capture the peak levels of TSH that occur in newborns with
congenital hypothyroidism.
 In some cases, repeat screening may be necessary if the initial test is inconclusive.
4. Diagnostic Follow-up:
 If the initial screening test shows elevated TSH levels, further diagnostic evaluation is
performed to confirm the diagnosis of congenital hypothyroidism.
 Diagnostic tests may include additional blood tests, such as free thyroxine (T4)
measurement, thyroid ultrasound, or thyroid scintigraphy.
 The diagnostic evaluation aims to assess thyroid function, identify the underlying cause of
hypothyroidism, and determine the appropriate treatment approach.
5. Treatment:
 Prompt treatment is essential for infants diagnosed with congenital hypothyroidism.
 The primary treatment involves the administration of synthetic thyroid hormone
(levothyroxine) to replace the inadequate thyroid hormone production.
 The dosage of levothyroxine is adjusted based on the baby's age, weight, and thyroid
hormone levels, aiming to restore thyroid hormone levels to normal.
 Regular monitoring of thyroid function is conducted to ensure optimal hormone
replacement.

Non-thyroidal illness:
1. Pathophysiology:
 Non-thyroidal illness is characterized by changes in thyroid hormone levels, including a
decrease in serum triiodothyronine (T3) levels, a decrease or normal range of thyroxine (T4)
levels, and variable changes in thyroid-stimulating hormone (TSH) levels.
 The exact mechanisms underlying these alterations are not fully understood but involve
complex interactions between the hypothalamus, pituitary gland, peripheral tissues, and
inflammatory mediators.
 Various factors, such as cytokines, stress response, nutritional deficiencies, medications, and
alterations in binding proteins, contribute to the disruption of thyroid hormone metabolism
and transport.
2. Clinical Features:
 Non-thyroidal illness is often associated with nonspecific clinical manifestations related to
 the underlying systemic illness.
 Patients may exhibit fatigue, weight loss, muscle weakness, decreased appetite, and
alterations in mental status.
 The severity and specific symptoms depend on the nature and extent of the underlying
illness.
3. Laboratory Findings:
 Thyroid hormone levels: The most consistent finding in non-thyroidal illness is a decrease in
serum T3 levels, which may be accompanied by normal or low-normal T4 levels. TSH levels
may be normal, decreased, or slightly increased.
 Reverse T3 (rT3): During illness, there is an increase in the production of rT3, an inactive
form of T3. Elevated rT3 levels contribute to the decrease in active T3 levels.
 Thyroid-binding proteins: Changes in binding proteins, such as albumin and transthyretin,
can affect the transport and availability of thyroid hormones.
 Thyroid receptor expression: In non-thyroidal illness, there may be altered expression and
activity of thyroid hormone receptors in target tissues, contributing to the metabolic
changes.
4. Diagnosis:
 The diagnosis of non-thyroidal illness is based on the clinical context, characteristic
laboratory findings, and the absence of primary thyroid dysfunction.
 It is important to rule out other causes of thyroid dysfunction, such as primary thyroid
disease or medication-related effects, before attributing the thyroid hormone alterations
solely to the non-thyroidal illness.
5. Treatment:
 In most cases, non-thyroidal illness does not require specific treatment targeting the thyroid
hormone alterations.
 The focus should be on managing the underlying systemic illness and supporting the
patient's general well-being.
 As the non-thyroidal illness resolves, thyroid hormone levels typically normalize without
intervention.
Clinical Characteristics of Hyperthyroidism:
1. General Symptoms:
 Weight loss despite increased appetite
 Heat intolerance and excessive sweating
 Tremors or shaking of the hands
 Nervousness, irritability, and anxiety
 Fatigue and muscle weakness
 Increased bowel movements or diarrhea
2. Cardiovascular Symptoms:
 Rapid heartbeat (tachycardia) and palpitations
 High blood pressure
  Irregular heart rhythms (arrhythmias)
 Chest pain or tightness
3. Metabolic Symptoms:
 Increased basal metabolic rate
 Increased body temperature
 Heat intolerance
 Increased appetite with weight loss
4. Dermatological Symptoms:
 Warm, moist skin
 Hair thinning or hair loss
 Nail fragility and separation
 Itchy skin or hives (rare)
5. Ophthalmic Symptoms (Thyroid Eye Disease):
 Bulging eyes (exophthalmos)
 Double vision (diplopia)
 Eye dryness and irritation
 Eye redness and swelling
 Sensitivity to light
Causes of Hyperthyroidism:
1. Graves' Disease:
 An autoimmune disorder where the immune system mistakenly produces antibodies that
stimulate the thyroid gland to overproduce thyroid hormones.
2. Toxic Multinodular Goiter (Plummer's Disease):
 The presence of multiple autonomously functioning thyroid nodules that produce excess
thyroid hormones.
3. Thyroiditis:
 Inflammation of the thyroid gland that leads to the release of stored thyroid hormones.
4. Excessive Iodine Intake:
 Consuming large amounts of iodine, such as through medications or supplements, can lead
to hyperthyroidism.
5. Thyroid Cancer:
 Rarely, certain types of thyroid cancer can cause hyperthyroidism due to the abnormal
production of thyroid hormones.
Diagnosis of Hyperthyroidism:
 Physical examination: Assessing the clinical symptoms and signs, including enlargement of
the thyroid gland (goiter) and eye changes (in thyroid eye disease).
 Blood tests: Measuring levels of thyroid-stimulating hormone (TSH), free thyroxine (T4), and
triiodothyronine (T3) to evaluate thyroid hormone levels.
 Radioactive iodine uptake (RAIU) test: Determining how much iodine the thyroid gland takes
up, which helps differentiate the causes of hyperthyroidism.
  Thyroid ultrasound: Imaging the thyroid gland to assess its structure and identify any
nodules or abnormalities.
 Thyroid scan: Using radioactive substances to visualize the thyroid gland and identify areas
of hyperactivity or nodules.
Treatment of Hyperthyroidism:
1. Anti-thyroid Medications:
 Methimazole or propylthiouracil (PTU) to inhibit the production of thyroid hormones.
2. Radioactive Iodine Therapy:
 Administering a radioactive form of iodine that selectively destroys the overactive thyroid
tissue.
3. Thyroidectomy:
 Surgical removal of part or all of the thyroid gland, usually reserved for cases of severe
hyperthyroidism or when other treatments are contraindicated.
4. Beta-Blockers:
 Medications such as propranolol to alleviate symptoms like rapid heartbeat, tremors, and
anxiety.

Thyroid Eye Disease (Graves' Ophthalmopathy):

 Thyroid eye disease is an autoimmune condition that often accompanies Graves' disease,
although it can occur independently.
 It is characterized by inflammation and swelling of the tissues around the eyes, which can
cause various eye-related symptoms.
 Clinical Features:
 Bulging eyes (exophthalmos): The eye muscles and fatty tissues behind the eyes
become inflamed and expand, pushing the eyes forward.
 Double vision (diplopia): Inflammation of the eye muscles can disrupt their
coordinated movement, leading to double vision.
 Eye dryness and irritation: The autoimmune process can affect tear production and
lead to dryness, redness, and discomfort.
 Eye redness and swelling: Inflammation in the eye tissues can cause redness and
swelling.
 Sensitivity to light: Some individuals may experience increased sensitivity to light
(photophobia).
 Eyelid retraction and lid lag: The upper eyelids may retract, giving the appearance of
a wide-eyed or startled expression. Lid lag refers to a delay in the downward
movement of the eyelid when looking down.
 Diagnosis:
 Diagnosis of thyroid eye disease is based on clinical signs and symptoms, along with
the presence of underlying hyperthyroidism.
 Evaluation by an ophthalmologist is crucial to assess the severity and progression of

Crregullimet e rritjes dhe akromegalia:
 Rritje e shpejte dy vitet e para
 Rritje e qendrueshme 9 vite (GH)
 Vrulli rritjes ne pubertet (GH; hormone
seksuale)
Shkaqet e gjatesise se shkurter fiziologjike
Testi pamjaftueshmerise se hormonit te rritjes
Rritja e terpert
akromegalia
eye involvement.
 Imaging studies, such as orbital computed tomography (CT) or magnetic resonance
imaging (MRI), may be performed to evaluate the extent of inflammation and tissue
changes.
 Treatment:
 Mild cases may not require specific treatment and may improve over time as
hyperthyroidism is controlled.
 Management focuses on symptomatic relief and preserving visual function.
 Lubricating eye drops and ointments can alleviate dryness and irritation.
 Prisms or special glasses may help manage double vision.
 In severe cases, corticosteroids or other immunosuppressive medications may be
used to reduce inflammation.
 Surgical interventions, such as orbital decompression or corrective eyelid surgery,
may be considered for severe cases with vision-threatening complications or
significant cosmetic concerns.
1. Growth Hormone (GH) Secretion:
 The growth hormone (GH) is secreted by the anterior pituitary gland and plays a crucial role
in promoting normal growth.
 GH secretion is regulated by the hypothalamus-pituitary axis.
 Growth hormone-releasing hormone (GHRH) stimulates GH release, while somatostatin
inhibits its release.
2. Growth Hormone Actions:
 GH acts directly on target tissues or indirectly by stimulating the production of insulin-like
growth factors (IGFs).
 IGF-1 is the primary mediator of GH actions on growth.
 GH and IGF-1 promote cell proliferation, differentiation, and anabolic processes in various
tissues, including bones, muscles, and organs.
3. Regulation of Growth:
 Growth is a complex process influenced by genetic, nutritional, hormonal, and
environmental factors.
 Genetic factors play a significant role in determining growth potential and the timing of
growth spurts.
 Adequate nutrition, especially protein intake, is essential for normal growth.
 Hormonal factors, including GH, thyroid hormones, and sex hormones, regulate growth
processes.
4. Growth Phases:
 Prenatal Growth: Occurs during intrauterine development and is primarily controlled by
genetic factors and placental factors.
 Infantile Growth: Rapid growth occurs during the first year of life, primarily driven by
nutritional factors and GH secretion.
 Childhood Growth: Growth continues at a relatively steady pace, influenced by GH, IGF-1,
and sex hormones. Growth velocity gradually decreases.
 Pubertal Growth: Growth accelerates during puberty, driven by increased GH secretion, sex
hormone release, and skeletal growth plates' closure.
 Adult Growth: Growth plates fuse, and longitudinal growth stops, but skeletal remodeling
and tissue maintenance continue.
5. Growth Disorders:
 Growth Hormone Deficiency (GHD): Insufficient GH secretion leads to stunted growth,
delayed skeletal maturation, and reduced muscle mass. Treatment involves GH replacement
therapy.
 Gigantism: Excessive GH secretion before epiphyseal closure leads to excessive linear
growth, gigantism, and proportional body enlargement.
 Acromegaly: Excessive GH secretion after epiphyseal closure results in thickening of bones,
enlargement of soft tissues, and organomegaly.
 Constitutional Growth Delay: Delayed growth and puberty with a later growth spurt but
normal final height.
 Idiopathic Short Stature: Persistent short stature without identifiable causes, often within
the lower end of the normal height range.

1. Definition:
 Growth hormone insufficiency (GHI) refers to a condition characterized by inadequate
production or secretion of growth hormone (GH) from the anterior pituitary gland.
2. Causes:
 Congenital GHI: Present from birth and often due to genetic mutations affecting the
production or action of GH or other factors involved in GH secretion.
 Acquired GHI:
 Idiopathic GHI: No identifiable cause.
 Trauma or Injury: Damage to the hypothalamus or pituitary gland, leading to
impaired GH production or release.
 Tumors: Benign or malignant tumors in the pituitary or hypothalamus can disrupt GH
production.
 Infections or Inflammation: Inflammatory conditions affecting the pituitary or
hypothalamus can impair GH production.
 Radiation or Surgery: Treatment for pituitary tumors or cranial irradiation can
damage the pituitary gland and lead to GHI.
3. Clinical Presentation:
 Short Stature: The most common and recognizable feature of GHI is slow growth and
significantly shorter stature compared to peers.
 Delayed Growth Milestones: Children with GHI may exhibit delayed or absent growth spurts
and delayed skeletal maturation.
  Proportional Body Features: Growth is typically proportionate, meaning that body segments
are equally affected.
 Delayed Puberty: GHI can also delay the onset of puberty, resulting in delayed sexual
development.
4. Diagnosis:
 Physical Examination: Assessing height, growth rate, and other signs of GHI.
 Growth Hormone Stimulation Test: Measuring the response of GH levels to pharmacological
agents that stimulate GH secretion.
 Insulin-Like Growth Factor 1 (IGF-1) Measurement: IGF-1 levels are usually low in individuals
with GHI as GH stimulates IGF-1 production.
 Imaging Studies: Magnetic resonance imaging (MRI) or computed tomography (CT) scans of
the brain may be performed to assess the pituitary gland and rule out structural
abnormalities.
5. Treatment:
 Growth Hormone Replacement Therapy: The mainstay of treatment for GHI is the
administration of exogenous synthetic GH to replace the deficient hormone.
 Treatment is typically started in childhood and continued until the epiphyseal growth plates
close.
 Regular monitoring of growth, hormone levels, and potential side effects is essential.
causes of low height
1. Genetic Factors:
 Familial Short Stature: Inherited short stature due to genetic factors. It is often a variation
within the normal range of height.
 Growth Hormone Insufficiency: Inadequate production or secretion of growth hormone (GH)
from the pituitary gland can result in slow or impaired growth.
 Genetic Syndromes: Certain genetic conditions, such as Turner syndrome, Noonan
syndrome, or Down syndrome, are associated with short stature.
2. Nutritional Factors:
 Malnutrition: Inadequate intake of essential nutrients, especially during critical periods of
growth, can lead to impaired growth and short stature.
 Chronic Illness: Certain chronic conditions, such as gastrointestinal disorders or renal
insufficiency, can impact nutrient absorption or utilization, affecting growth.
3. Endocrine Factors:
 Hypothyroidism: Insufficient production or action of thyroid hormones can disrupt normal
growth and development, leading to short stature.
 Cushing's Syndrome: Excessive production of cortisol, either due to adrenal gland
dysfunction or prolonged glucocorticoid therapy, can affect growth and lead to short stature.
 Gonadal Disorders: Disorders affecting the testes or ovaries, such as primary ovarian
insufficiency or testicular dysfunction, can disrupt the production of sex hormones essential
for normal growth.
4. Skeletal Disorders:
 Achondroplasia: A genetic disorder characterized by abnormal bone growth, resulting in
short stature and disproportionate limb length.
 Skeletal Dysplasias: Various genetic disorders affecting bone and cartilage development can
cause short stature, such as osteogenesis imperfecta or hypochondroplasia.
 Constitutional Growth Delay: Children with constitutional growth delay have delayed growth
and puberty but eventually reach their normal height potential.
5. Environmental Factors:
 Socioeconomic Factors: Poor living conditions, limited access to healthcare, and nutritional
deficiencies associated with socioeconomic factors can contribute to stunted growth.
 Psychosocial Factors: Emotional stress, neglect, or abuse can impact growth and
development, leading to short stature.
1. Gigantism:
 Definition: Gigantism is a rare condition characterized by excessive growth and stature due
to the overproduction of growth hormone (GH) before the closure of the epiphyseal growth
plates in children and adolescents.
 Cause: Gigantism is usually caused by a benign tumor of the pituitary gland called pituitary
adenoma, which secretes excessive GH.
 Clinical Features: Gigantism is characterized by accelerated linear growth, increased height,
and rapid skeletal maturation. Other features may include enlarged hands and feet, facial
changes, joint pain, and organomegaly.
 Diagnosis: Diagnosis is made based on clinical evaluation, growth hormone and insulin-like
growth factor 1 (IGF-1) levels, and imaging studies, such as magnetic resonance imaging
(MRI) of the brain to visualize the pituitary gland and identify any tumors.
 Treatment: The primary treatment is surgical removal or radiation therapy to eliminate the
pituitary adenoma. In some cases, medications that inhibit GH secretion, such as
somatostatin analogs or growth hormone receptor antagonists, may be used.
2. Acromegaly:
 Definition: Acromegaly is a condition characterized by excessive growth hormone (GH)
production and elevated insulin-like growth factor 1 (IGF-1) levels after the closure of the
epiphyseal growth plates in adults.
 Cause: Acromegaly is most commonly caused by a pituitary adenoma, similar to gigantism,
but it develops after the completion of linear growth.
 Clinical Features: Acromegaly is characterized by gradual enlargement of hands, feet, facial
bones, and soft tissues. Patients may experience joint pain, thickened skin, enlarged organs,
hypertension, and changes in facial features.
 Diagnosis: Diagnosis is made through clinical evaluation, measurement of GH and IGF-1
levels, and imaging studies, such as MRI of the brain.
 Treatment: The primary treatment is surgical removal of the pituitary adenoma. Medications
that suppress GH secretion, such as somatostatin analogs or growth hormone receptor
 antagonists, may be used as adjuvant therapy. In some cases, radiation therapy may be
necessary.
1. Understanding the differences between gigantism and acromegaly, including their causes,
clinical features, diagnosis, and treatment, is important for healthcare professionals to
recognize and manage these conditions. Early diagnosis and appropriate treatment can help
prevent complications and improve patients' quality of life.

Gigantism:
 Definition: Gigantism is a rare condition characterized by excessive growth and stature due
to the overproduction of growth hormone (GH) before the closure of the epiphyseal growth
plates in children and adolescents.
 Cause: Gigantism is usually caused by a benign tumor of the pituitary gland called pituitary
adenoma, which secretes excessive GH.
 Clinical Features: Gigantism is characterized by accelerated linear growth, increased height,
and rapid skeletal maturation. Other features may include enlarged hands and feet, facial
changes, joint pain, and organomegaly.
 Diagnosis: Diagnosis is made based on clinical evaluation, growth hormone and insulin-like
growth factor 1 (IGF-1) levels, and imaging studies, such as magnetic resonance imaging
(MRI) of the brain to visualize the pituitary gland and identify any tumors.
 Treatment: The primary treatment is surgical removal or radiation therapy to eliminate the
pituitary adenoma. In some cases, medications that inhibit GH secretion, such as
somatostatin analogs or growth hormone receptor antagonists, may be used.
2. Acromegaly:
 Definition: Acromegaly is a condition characterized by excessive growth hormone (GH)
production and elevated insulin-like growth factor 1 (IGF-1) levels after the closure of the
epiphyseal growth plates in adults.
 Cause: Acromegaly is most commonly caused by a pituitary adenoma, similar to gigantism,
but it develops after the completion of linear growth.
 Clinical Features: Acromegaly is characterized by gradual enlargement of hands, feet, facial
bones, and soft tissues. Patients may experience joint pain, thickened skin, enlarged organs,
hypertension, and changes in facial features.
 Diagnosis: Diagnosis is made through clinical evaluation, measurement of GH and IGF-1
levels, and imaging studies, such as MRI of the brain.
 Treatment: The primary treatment is surgical removal of the pituitary adenoma. Medications
that suppress GH secretion, such as somatostatin analogs or growth hormone receptor
antagonists, may be used as adjuvant therapy. In some cases, radiation therapy may be
necessary.
Understanding the differences between gigantism and acromegaly, including their causes, clinical
features, diagnosis, and treatment, is important for healthcare professionals to recognize and
manage these conditions. Early diagnosis and appropriate treatment can help prevent complications
and improve patients' quality of life.

Certainly! Here are the details you need to know about the causes of tall stature for your
biochemistry exam, listed, detailed, and classified:
1. Genetic Factors:
 Familial Tall Stature: Some individuals may have a genetic predisposition to being taller than
average due to inherited variations in height-related genes.
 Marfan Syndrome: Marfan syndrome is a genetic disorder that affects connective tissue. One
of its characteristic features is tall stature, along with long limbs, joint hypermobility, and
other systemic manifestations.
2. Constitutional Growth Variants:
 Constitutional Tall Stature: Some individuals have a naturally taller height within the normal
range due to constitutional factors. They typically have normal growth velocity, bone age,
and proportional body development.
3. Hormonal Factors:
 Growth Hormone Excess: Rarely, excessive production of growth hormone (GH) from the
pituitary gland can cause tall stature. This can occur due to a pituitary adenoma or other
conditions leading to excess GH secretion.
 Hyperthyroidism: Thyroid hormone excess, as seen in conditions like Graves' disease, can
accelerate growth and result in tall stature.
4. Nutritional Factors:
 Adequate Nutrition: Good overall nutrition, including a balanced diet with adequate calorie
intake and appropriate macronutrient composition, can contribute to optimal growth and
potentially result in taller stature.
5. Skeletal Disorders:
 Klinefelter Syndrome: Klinefelter syndrome is a chromosomal disorder characterized by an
extra X chromosome in males (XXY). It is associated with tall stature, among other physical
and developmental features.
 Homocystinuria: Homocystinuria is a rare inherited metabolic disorder that affects the
metabolism of homocysteine. Individuals with untreated homocystinuria may experience tall
stature, skeletal abnormalities, and other clinical manifestations.
6. Environmental Factors:
 Socioeconomic Factors: Factors such as improved socioeconomic conditions, access to better
healthcare, and improved nutrition can contribute to increased height in certain populations.
1. Definition and Overview:
 Acromegaly is a rare hormonal disorder characterized by excessive production of growth
hormone (GH) after the closure of the growth plates, leading to abnormal growth and
enlargement of certain body parts.
 It typically results from a benign tumor of the pituitary gland called a growth hormone-
secreting pituitary adenoma.
 2. Clinical Features and Manifestations:
 Skeletal Overgrowth: The excess GH stimulates bone and cartilage growth, resulting in
enlarged hands and feet, facial changes (e.g., enlarged nose, protruding jaw), and increased
overall body size.
 Soft Tissue Enlargement: The soft tissues, including the tongue, lips, and internal organs, may
also undergo enlargement.
 Joint Pain: Enlarged joints can lead to joint pain and stiffness.
 Organ Dysfunction: Acromegaly can cause cardiovascular complications, respiratory
problems, diabetes mellitus, hypertension, and other metabolic disorders.
 Changes in Appearance: Patients may experience coarse facial features, thickened skin, and
enlarged sweat glands.
3. Causes:
 Pituitary Adenoma: The vast majority of acromegaly cases are caused by a benign pituitary
adenoma that produces excessive growth hormone. These tumors are typically slow-growing
and noncancerous.
4. Diagnosis:
 Clinical Evaluation: A detailed medical history and physical examination can reveal
characteristic features of acromegaly, such as enlarged hands, feet, and facial changes.
 Hormone Measurements: Blood tests can assess the levels of insulin-like growth factor 1
(IGF-1) and growth hormone. Elevated levels of these hormones support the diagnosis.
 Oral Glucose Tolerance Test (OGTT): GH suppression testing with an OGTT can help confirm
the diagnosis. In acromegaly, GH levels fail to suppress adequately following glucose
administration.
 Imaging Studies: Imaging techniques like magnetic resonance imaging (MRI) can identify and
locate pituitary adenomas.
5. Treatment:
 Surgery: Surgical removal of the pituitary adenoma (transsphenoidal surgery) is the primary
treatment for acromegaly. It aims to achieve complete tumor removal or tumor debulking.
 Radiation Therapy: Radiation therapy may be used following surgery to target any remaining
tumor cells or when surgery is not feasible.
 Medications: Medications, such as somatostatin analogs (e.g., octreotide, lanreotide),
growth hormone receptor antagonists (e.g., pegvisomant), and dopamine agonists (e.g.,
cabergoline), can help lower GH levels and control symptoms.
 Follow-up and Monitoring: Regular monitoring of GH and IGF-1 levels, as well as clinical
assessment, is essential to evaluate treatment effectiveness and adjust therapy as needed.
Certainly! Here are the details you need to know about functional exams for assessing liver function
(hepar) for your biochemistry exam, listed, detailed, and classified:
1. Liver Enzymes:
 Alanine Aminotransferase (ALT): ALT is primarily found in hepatocytes and is a sensitive
marker of hepatocellular injury. Elevated ALT levels indicate liver cell damage or
 inflammation, such as in viral hepatitis or drug-induced liver injury.
 Aspartate Aminotransferase (AST): AST is found in hepatocytes, as well as other tissues like
the heart, skeletal muscle, and kidneys. Elevated AST levels can be seen in liver diseases, but
it is less specific for liver injury compared to ALT.
 Alkaline Phosphatase (ALP): ALP is an enzyme present in the liver, biliary tract, bones, and
intestines. Elevated ALP levels suggest liver or biliary tract obstruction, cholestasis, or bone
disorders.
2. Bilirubin:
 Total Bilirubin: Total bilirubin represents the sum of conjugated (direct) and unconjugated
(indirect) bilirubin in the blood. Elevated levels indicate impaired bilirubin metabolism or
clearance, as seen in liver diseases or biliary obstruction.
 Direct Bilirubin: Direct bilirubin represents conjugated bilirubin, which is water-soluble and
excreted in the bile. Elevated direct bilirubin levels suggest intrahepatic or extrahepatic
cholestasis.
3. Coagulation Profile:
 Prothrombin Time (PT): PT measures the extrinsic pathway of the coagulation cascade.
Prolonged PT suggests impaired hepatic synthesis of clotting factors, as seen in liver disease.
 International Normalized Ratio (INR): INR is calculated from the PT and is used to monitor
the effectiveness of oral anticoagulant therapy. Elevated INR indicates impaired hepatic
synthesis of clotting factors.
4. Albumin and Total Protein:
 Albumin: Albumin is synthesized by the liver and is an important marker of synthetic liver
function. Decreased albumin levels indicate impaired hepatic synthesis or increased loss, as
seen in liver diseases.
 Total Protein: Total protein includes albumin and other proteins. Decreased total protein
levels can indicate liver disease or malnutrition.
Classification: Liver function tests can be classified into different categories based on their specific
functions and markers:
1. Hepatocellular Injury:
 ALT: Specific marker of hepatocellular injury.
 AST: Less specific marker, present in hepatocytes and other tissues.
2. Cholestasis and Biliary Tract Obstruction:
 ALP: Elevated in liver diseases or biliary obstruction.
 Total Bilirubin: Elevated in impaired bilirubin metabolism or clearance.
 Direct Bilirubin: Elevated in intrahepatic or extrahepatic cholestasis.
3. Synthetic Function:
 Albumin: Marker of synthetic liver function.
 Total Protein: Includes albumin and other proteins.
4. Coagulation Profile:
 PT: Measures the extrinsic pathway of the coagulation cascade.
  INR: Derived from the PT, used to monitor anticoagulant therapy.

Certainly! Here are the details you need to know about icterus (jaundice) for your biochemistry
exam, listed, detailed, and classified:
1. Definition:
 Icterus, commonly known as jaundice, refers to the yellow discoloration of the skin, mucous
membranes, and sclerae due to elevated levels of bilirubin in the blood.
 Bilirubin is a yellow-orange pigment produced during the breakdown of hemoglobin from
red blood cells.
2. Classification of Jaundice:
 Pre-hepatic (hemolytic) jaundice: Increased bilirubin production due to excessive breakdown
of red blood cells. Causes include hemolytic anemia, hereditary spherocytosis, and malaria.
 Hepatic (hepatocellular) jaundice: Impaired uptake, conjugation, or excretion of bilirubin by
hepatocytes. Causes include viral hepatitis, alcoholic liver disease, drug-induced liver injury,
and autoimmune hepatitis.
 Post-hepatic (obstructive) jaundice: Obstruction of bile flow from the liver to the intestines.
Causes include gallstones, tumors, strictures, and biliary atresia.
3. Clinical Features:
 Yellow discoloration of the skin, sclerae, and mucous membranes.
 Dark urine: Bilirubin excreted in the urine gives it a dark amber color.
 Pale stools: Absence of bilirubin in the intestines results in pale or clay-colored stools.
 Pruritus (itching): Accumulation of bile salts in the skin causes itching in some cases.
 Systemic symptoms: Fatigue, abdominal pain, nausea, and loss of appetite may be present,
depending on the underlying cause.
4. Laboratory Evaluation:
 Total bilirubin: Elevated levels indicate increased bilirubin production, impaired uptake or
conjugation, or decreased excretion.
 Direct (conjugated) bilirubin: Elevated levels suggest hepatocellular or post-hepatic jaundice.
 Indirect (unconjugated) bilirubin: Elevated levels indicate pre-hepatic jaundice or impaired
bilirubin uptake by hepatocytes.
 Liver function tests: Assess the liver's synthetic function, including serum albumin, total
protein, and prothrombin time.
5. Diagnostic Imaging:
 Ultrasonography: Used to visualize the liver, gallbladder, bile ducts, and other structures to
detect any abnormalities.
 Magnetic Resonance Cholangiopancreatography (MRCP): Provides detailed images of the
biliary system to identify any obstructions or structural abnormalities.
 Computed Tomography (CT) Scan: Helps evaluate the liver and surrounding structures and
identify any masses or blockages.
Treatment and Management:
  Treatment of icterus depends on the underlying cause.
 Management may involve addressing the specific liver disorder, such as antiviral therapy for
viral hepatitis or surgical intervention for biliary obstruction.
 Symptomatic treatment may include adequate hydration, nutrition, and relief of itching.
 In severe cases, hospitalization and supportive care may be required.
Causes of High Bilirubin in the Blood:
1. Pre-Hepatic (Hemolytic) Causes:
 Increased bilirubin production due to excessive breakdown of red blood cells.
 Causes include hemolytic anemias (e.g., sickle cell anemia, thalassemia), autoimmune
hemolytic anemia, hereditary spherocytosis, and certain medications.
2. Hepatic (Hepatocellular) Causes:
 Impaired uptake, conjugation, or excretion of bilirubin by hepatocytes.
 Causes include viral hepatitis (hepatitis A, B, C, etc.), alcoholic liver disease, drug-induced
liver injury, autoimmune hepatitis, primary biliary cholangitis, and primary sclerosing
cholangitis.
3. Post-Hepatic (Obstructive) Causes:
 Obstruction of bile flow from the liver to the intestines.
 Causes include gallstones, tumors (e.g., pancreatic cancer, cholangiocarcinoma), strictures
(e.g., from previous surgeries or inflammations), biliary atresia (in infants), and
choledocholithiasis (stones in the common bile duct).
Biochemical Exams for Icterus:
1. Total Bilirubin: Measures the total amount of bilirubin in the blood (both direct and indirect).
2. Direct (Conjugated) Bilirubin: Measures the fraction of bilirubin that has been conjugated in
the liver and is water-soluble.
3. Indirect (Unconjugated) Bilirubin: Measures the fraction of bilirubin that has not been
conjugated and is bound to albumin.
4. Liver Enzymes: Alanine aminotransferase (ALT) and aspartate aminotransferase (AST) are
measured to assess hepatocellular injury.
5. Alkaline Phosphatase (ALP): Measures the activity of ALP, which is elevated in liver diseases
or biliary obstruction.
6. Gamma-Glutamyl Transferase (GGT): Measures the activity of GGT, which is elevated in liver
diseases and cholestasis.
7. Prothrombin Time (PT) and International Normalized Ratio (INR): Assess the synthetic
function of the liver by measuring blood clotting times.
Differential Diagnosis of Icterus: Icterus can have various causes, and a thorough differential
diagnosis is crucial. Here are some key differential diagnoses based on the underlying mechanisms:
1. Pre-Hepatic (Hemolytic) Causes:
 Hemolytic anemias (sickle cell anemia, thalassemia)
 Autoimmune hemolytic anemia
 Hereditary spherocytosis
 2. Hepatic (Hepatocellular) Causes:
 Viral hepatitis (hepatitis A, B, C, etc.)
 Alcoholic liver disease
 Drug-induced liver injury
 Autoimmune hepatitis
 Primary biliary cholangitis
 Primary sclerosing cholangitis
3. Post-Hepatic (Obstructive) Causes:
 Gallstones
 Pancreatic cancer
 Cholangiocarcinoma
 Strictures (post-surgical or inflammatory)
 Biliary atresia (in infants)
 Choledocholithiasis (stones in the common bile duct)

Certainly! Here are the details you need to know about hemolysis, bile blockage out of the liver, and
hepatocellular damage for your biochemistry exam. The information is listed, detailed, and classified
for better understanding:
1. Hemolysis:
 Definition: Hemolysis refers to the premature destruction of red blood cells, resulting in the
release of hemoglobin and bilirubin into the bloodstream.
 Mechanism: Hemolysis can occur due to various factors, including inherited disorders (e.g.,
sickle cell anemia, thalassemia), autoimmune diseases (e.g., autoimmune hemolytic anemia),
or exposure to certain drugs or toxins.
 Biochemical Features:
 Increased total and indirect (unconjugated) bilirubin levels due to the excessive
breakdown of red blood cells.
 Increased lactate dehydrogenase (LDH) and haptoglobin levels, as LDH is released
from damaged red blood cells and haptoglobin binds to free hemoglobin.
 Decreased or normal levels of direct (conjugated) bilirubin.
2. Bile Blockage out of the Liver:
 Definition: Bile blockage refers to the obstruction of bile flow from the liver to the intestines,
leading to impaired bilirubin excretion.
 Mechanism: Bile blockage can occur due to gallstones, tumors (e.g., pancreatic cancer,
cholangiocarcinoma), strictures (e.g., post-surgical or inflammatory), biliary atresia (in
infants), or choledocholithiasis (stones in the common bile duct).
 Biochemical Features:
 Increased total and direct (conjugated) bilirubin levels due to impaired bilirubin
excretion into the intestines.
 Increased alkaline phosphatase (ALP) and gamma-glutamyl transferase (GGT) levels,
 as both enzymes are present in the biliary epithelium.
 Normal or mildly increased lactate dehydrogenase (LDH) levels.
3. Hepatocellular Damage:
 Definition: Hepatocellular damage refers to injury or dysfunction of the liver cells
(hepatocytes), leading to impaired bilirubin uptake, conjugation, or excretion.
 Mechanism: Hepatocellular damage can occur due to various factors, including viral hepatitis
(e.g., hepatitis A, B, C), alcoholic liver disease, drug-induced liver injury, autoimmune
hepatitis, primary biliary cholangitis, or primary sclerosing cholangitis.
 Biochemical Features:
 Increased total and direct (conjugated) bilirubin levels due to impaired bilirubin
uptake or conjugation.
 Increased alanine aminotransferase (ALT) and aspartate aminotransferase (AST)
levels, indicating hepatocellular injury.
 Mild to moderate increase in alkaline phosphatase (ALP) and gamma-glutamyl
transferase (GGT) levels.
Differentiating between the causes of high bilirubin in the blood (icterus) requires additional
investigations such as imaging studies, clinical history, and physical examination. Here are some
additional details to aid in the differential diagnosis:
1. Hemolysis:
 Laboratory Findings:
 Peripheral blood smear: Presence of abnormal red blood cells (e.g., spherocytes,
sickle cells) or signs of hemolysis (e.g., fragmented cells).
 Increased reticulocyte count: Reflects increased red blood cell production in
response to hemolysis.
 Coombs test: Helps differentiate autoimmune hemolytic anemia (positive) from
other causes of hemolysis.
 Clinical Features:
 Anemia: Often accompanied by other symptoms of anemia such as fatigue, pallor,
and shortness of breath.
 Splenomegaly: Enlargement of the spleen due to increased clearance of damaged
red blood cells.
2. Bile Blockage out of the Liver:
 Laboratory Findings:
 Abdominal ultrasound or MRI: Detects the presence of gallstones, tumors, or biliary
duct obstructions.
 Endoscopic retrograde cholangiopancreatography (ERCP): Visualizes the biliary tree
and helps identify strictures or stones.
 Clinical Features:
 Jaundice: Yellowing of the skin and eyes due to the accumulation of bilirubin.
 Abdominal pain or discomfort: Associated with gallstones or biliary duct
 obstructions.
 Pruritus: Itching caused by the deposition of bile salts in the skin.
3. Hepatocellular Damage:
 Laboratory Findings:
 Viral serology: Detects specific antibodies or viral DNA/RNA to identify the causative
virus (e.g., hepatitis B, hepatitis C).
 Liver biopsy: Provides histopathological assessment of liver tissue, helping to identify
the underlying cause and extent of hepatocellular damage.
 Clinical Features:
 Hepatomegaly: Enlargement of the liver due to inflammation or fatty liver.
 Constitutional symptoms: Fatigue, loss of appetite, and malaise are common.
 Signs of chronic liver disease: Spider angiomata, palmar erythema, and gynecomastia
may be present in advanced cases.
It is important to note that these are general guidelines, and the specific diagnostic approach may
vary depending on the individual patient and clinical context. Proper evaluation of the patient's
history, physical examination findings, laboratory results, and imaging studies is essential to arrive at
an accurate diagnosis and initiate appropriate management for icterus.

Here are the causes of acute liver disease that you should know for your biochemistry exam. The
causes are listed, detailed, and classified for better understanding:
1. Viral Hepatitis:
 Hepatitis A virus (HAV): Transmitted through contaminated food or water.
 Hepatitis B virus (HBV): Transmitted through blood, sexual contact, or perinatal transmission.
 Hepatitis C virus (HCV): Transmitted through blood, primarily via sharing needles or receiving
blood transfusions.
 Hepatitis D virus (HDV): Occurs as a co-infection with HBV or superinfection in individuals
with chronic HBV infection.
 Hepatitis E virus (HEV): Transmitted through contaminated water in developing countries.
2. Drug-Induced Liver Injury:
 Medications: Certain drugs and toxins can cause liver injury, including acetaminophen,
nonsteroidal anti-inflammatory drugs (NSAIDs), antibiotics (e.g., isoniazid, sulfonamides),
antiepileptic drugs (e.g., valproic acid), and statins.
 Herbal and dietary supplements: Some herbal products and dietary supplements have been
associated with hepatotoxicity.
3. Alcoholic Liver Disease:
 Excessive and chronic alcohol consumption can lead to alcoholic liver disease, including fatty
liver, alcoholic hepatitis, and alcoholic cirrhosis.
4. Autoimmune Hepatitis:
 Autoimmune hepatitis is characterized by immune-mediated inflammation of the liver,
 leading to liver damage.
 It can occur in both children and adults and is associated with the presence of
autoantibodies.
5. Ischemic Hepatitis:
 Ischemic hepatitis, also known as shock liver, occurs due to reduced blood flow and oxygen
supply to the liver, typically seen in conditions such as severe hypotension or cardiac failure.
6. Acute Liver Failure:
 Acute liver failure is a rare and life-threatening condition characterized by rapid liver
dysfunction and the inability to regenerate liver cells.
 Causes include viral hepatitis, drug-induced liver injury, autoimmune hepatitis, Wilson
disease, acute fatty liver of pregnancy, and other rare metabolic disorders.
Here are the details you should know about the progression of acute liver damage for your
biochemistry exam. The stages of acute liver damage are listed, detailed, and classified for better
understanding:
1. Initial Insult:
 The initial insult refers to the event or exposure that triggers liver damage. This can include
viral infection, drug overdose, toxin exposure, ischemia, or other causes.
 The insult leads to cellular injury and inflammation in the liver.
2. Hepatocellular Injury:
 Hepatocellular injury occurs as a result of the initial insult. It involves damage to liver cells
(hepatocytes) and disruption of their normal function.
 Biochemical markers of hepatocellular injury include elevated levels of liver enzymes, such
as alanine aminotransferase (ALT) and aspartate aminotransferase (AST), in the blood.
3. Inflammation and Immune Response:
 The hepatocellular injury triggers an inflammatory response in the liver.
 Inflammatory cells, such as neutrophils and macrophages, migrate to the liver to remove
damaged cells and initiate tissue repair.
 The immune response plays a role in clearing pathogens and foreign substances, but
excessive inflammation can also contribute to liver damage.
4. Necrosis and Cell Death:
 Severe liver damage can lead to hepatocyte necrosis, which is the death of liver cells.
 Necrotic cells release their contents, including enzymes and cell debris, into the
bloodstream.
 This can result in elevated levels of liver enzymes, bilirubin, and other markers of liver
dysfunction in the blood.
5. Regeneration and Repair:
 In response to liver injury, the liver has a remarkable capacity for regeneration and repair.
 Remaining healthy hepatocytes proliferate to replace the damaged cells and restore liver
function.
 Regeneration is driven by growth factors and cytokines, such as hepatocyte growth factor
 (HGF) and transforming growth factor-beta (TGF-β).
6. Resolution or Progression:
 The outcome of acute liver damage depends on various factors, including the severity of the
initial insult and the individual's overall health.
 In mild cases, the liver can recover fully, and liver function returns to normal.
 In more severe cases, liver damage can progress to complications such as liver failure,
cirrhosis, or even death.
he causes, clinical features, biochemical changes, and management of hepatic failure are listed,
detailed, and classified for better understanding:
1. Definition:
 Hepatic failure, also known as liver failure, is the severe impairment of liver function,
resulting in the inability to maintain normal metabolic and synthetic functions of the liver.
 It is a life-threatening condition that can occur acutely (acute hepatic failure) or develop over
time (chronic hepatic failure).
2. Causes:
 Acute Hepatic Failure:
 Viral hepatitis (e.g., hepatitis A, B, or E)
 Drug-induced liver injury (e.g., acetaminophen overdose)
 Ischemic liver injury (e.g., liver ischemia due to shock or vascular occlusion)
 Autoimmune hepatitis
 Wilson disease (a genetic disorder of copper metabolism)
 Acute fatty liver of pregnancy
 Chronic Hepatic Failure:
 Chronic hepatitis (e.g., hepatitis B or C)
 Alcoholic liver disease
 Non-alcoholic fatty liver disease (NAFLD)
 Cirrhosis (resulting from various causes such as chronic viral hepatitis, alcohol abuse,
or metabolic disorders)
3. Clinical Features:
 Jaundice (yellowing of the skin and eyes)
 Hepatomegaly (enlarged liver)
 Coagulopathy (abnormal bleeding and bruising)
 Ascites (accumulation of fluid in the abdomen)
 Hepatic encephalopathy (neurological symptoms due to liver dysfunction)
 Hypoglycemia (low blood sugar)
 Impaired synthetic function leading to hypoalbuminemia and edema
4. Biochemical Changes:
 Elevated liver enzymes: Alanine aminotransferase (ALT) and aspartate aminotransferase
(AST)
 Elevated bilirubin levels, leading to jaundice
  Prolonged prothrombin time (PT) and decreased levels of clotting factors due to impaired
synthesis
 Decreased serum albumin levels
 Elevated ammonia levels in hepatic encephalopathy
5. Management:
 Identification and treatment of the underlying cause, if possible
 Supportive care, including close monitoring of vital signs and fluid balance
 Nutritional support, with attention to protein intake and management of malnutrition
 Medications to manage complications, such as lactulose for hepatic encephalopathy
 In some cases, liver transplantation may be necessary for long-term survival.

C’eshte diabeti?
•Diabeti – grup crregullimesh metabolike qe
karakterizohet nga hiperglicemia e shkaktuar
nga defektet ne sekretimin e insulines,
veprimin e insulines ose ne te dyja
•Hiperglicemia kronike jep demtime dhe
crregullime te funksionit te organeve te
ndryshme vecanerisht ne sy, veshka, nerva,
zemer dhe enet e gjakut
2
C’eshte diabeti?
• Semundje kronike qe kerkon monitorim
dhe kujdes mjekesor te vazhdueshem me :
• Kontroll te glicemise
• Strategji per reduktimin e riskut
multifaktorial
• Edukimi i pacientit per vetemonitorim eshte
kritik per parandalimin e komplikacioneve
akute dhe reduktimin e riskut per
komplikacione afatgjata te shendetit.
3
Klasifikimi i diabetit
I Diabet i tipit 1
a) Mekanizem imun
b) Idiopatik
II Diabet i tipit 2
III Diabeti i barres
IV Tipe te tjera diabeti
a) Defekte gjenetike ne funksionin e qelizave beta
b) Defekte gjenetike ne funksionin e insulines
c) Semundje te pankreasit ekzokrin
d) Endokrinopati
e) Diabet i induktuar nga medikamente ose produkte kimike
f) Diabet i induktuar nga infeksione
g) Forma imune
h) Sindroma gjenetike qe shoqerohen me diabet
4
Diabeti i tipit te pare
–Shenjat e para ky tip i diabetit i jep qe ne femijeri
ose adoleshence – diabeti juvenil
–Diabeti i tipit te pare eshte nje semundje
autoimune qe shoqerohet me shkaterrim te
qelizave beta te pankreasit ku prodhohet insulina
– diabet insulinovartes
–Trajtimi i vetem ne kete forme diabeti eshte
injektimi i rregullt i insulines per te kompensuar
mos prodhimin ose prodhimin e reduktuar.
5
Diabeti i tipit te pare
Te dhenat klinike
–Diagnostikohet ne moshe te re (piku i diagnozes ne moshen
e pubertetit)
–Pacientet zakonisht kane etje te shtuar, urinim te shpeshte,
humbje ne peshe dhe dobesi (pakesim te energjive)
–Shpesh ka histori pozitive per pranine e diabetit ne familje
(jo gjithnje)
–Shpesh shoqerohet me demtim autoimun te organeve te
ndryshme endokrine (hipotiroze, hipoadrenalizem)
–Varesi gjate gjithe jetes nga insulina
–Progresion drejt ketozes (kur nuk mjekohet mire)
–Pacientet shpesh paraqiten me simptoma akute te diabetit,
hiperglicemi shume te larte, ne disa raste me forma te renda
ketoacidoze (ne rrezik jete)
6
Diabeti i tipit te pare
Te dhenat laboratorike
–Glicemia esell e larte (>126mg/dL)
–Glukozuri
–Shpesh gjejme ketonuri ose ketonemi
–Ulet perqendrimi i insulines
–Rritet perqendrimi i hemoglobines se glukozuar
–Ka prani te antikorpeve kunder ishujve te
pankreasit (gjenden shpesh pas vitit te pare te
diagnozes)
–Gjejme prevalence e larte e antigeneve HLADR3 dhe DR4
7
Diabeti i tipit te dyte
• Diabeti i tipit te dyte shfaqet ne pergjithesi ne moshen
adulte – Diabet i te rriturve
• Eshte rezultat i uljes se sekretimit te insulines e cila
eshte gjithashtu me pak efikase ne veprim. Shkak
eshte rezistenca e indeve periferike ndaj insulines –
Diabet insulinorezistent, joinsulinovartes
• Trajtimi eshte kompleks dhe perfshin rregullimin e
higjenes se jeteses (menyren e ushqyerjes, stilin e
jetes etj.) si dhe trajtime medikamentoze (preparate
hipoglicemiante, insuline).
8
Diabeti i tipit te dyte
Te dhena klinike
• Zakonisht nuk ka simptoma te hershme; ka nje faze
presimptomatike te gjate para diagnozes (prediabet)
• Diagnostikohet zakonisht pas moshes 40 vjec; eshte ulur
mosha e shfaqjes; diagnostikohet dhe ne moshat 30 – 40
vjec
• Shpesh shoqerohet me obezitet
• Historia familjare shume prezente
• Shpesh diagnostikohet pas instalimit te komplikacioneve
(p.sh. Kardiake)
• Shenjat te ngjashme me diabetin tip 1
• Pergjithesisht rezistente ndaj ketozes ; ketoza mund te
zhvillohet vetem ne situata te caktuara stresi
• Rezistence ndaj veprimeve te insulines
9
Rezistenca ndaj insulines
Rezistenca ndaj insulines eshte nje situate e lidhur
kryesisht me mbipeshen ne te cilen muskuli, hepari
dhe indi dhjazmor nuk e perdorin me efikasitet
insulinen.
Si rezultat organizmi kerkon me shume insuline per
te futur glukozen ne qeliza.
Ne fillim pankreasi adaptohet duke prodhuar me
shume insuline; me kalimin e kohes pankreasi
humbet aftesine per te prodhuar mjaftueshem
insuline pas ngrenieve. Rezultati eshte
hiperglicemia.
10
Diabeti i tipit te dyte
Te dhenat laboratorike
• Glukoze esell e larte (>126mg/dL)
• Testi i tolerances jonormal
• Glukozuri (variabel)
• Hemoglobina e glukozuar e shtuar
• Nivele te ndryshme te insulines
• Ulje e numrit te receptoreve te insulines ne inde te
ndryshme.
11
Diabeti i barres
• Diabeti i shfaqur vetem gjate shtatzanise.
• Zhvillohet ne rreth 7% te shtatzanive dhe ngjan
me diabetin e tipit te dyte
• Shton rriskun per komplikacione fetale dhe te
nenes gjate shtatzanise dhe lindjes
• Gruaja mund te shfaqe me vone diabet te tipit te
dyte
• Rekomandohet depistimi ne te gjitha grate ne
javen 24 – 28 te barres
• Testet e skrinimit jane glicemia esell dhe dy ore
pas ushqimit
12
Diabeti i barres
Hormonet qe prodhohen gjate shtatzanise rrisin
sasine e insulines qe kerkohet per te kontrolluar
perqendrimin e glukozes ne gjak.
Nese organizmi nuk i pergjigjet nevojes se shtuar
per insuline, gruaja mund te zhvilloje diabet ne fazat
e vona te shtatzanise.
Kjo forme diabeti zakonisht zhduket pas lindjes.
Ne 5 – 10% te grave me diabet te barres, glicemia
pas lindjes mbetet e larte; diabet i tipit 2
Femijet qe lindin nga nena me diabet te barres, jane
me te prekur nga obeziteti dhe diabeti i tipit 2.
13
Toleranca e thyer ndaj glukozes
•Gjendje prediabetike
•Hiperglicemi (100 – 126 mg/dl) qe shoqerohet me
rezistence ndaj insulines dhe risk te larte per
semundje kardiovaskulare
•Mund te paraprije diabetin e tipit te dyte per disa
vjet
•Toleranca e thyer eshte faktor risku dhe per
mortalitet
• Zhvillohet zakonisht ne mosha te shkuara
•Diagnoza vendoset me teste biokimike pasi
mungon simptomatologjia
14
Sindroma qe shoqerohen me
hiperglicemi
•Heqja kirurgjikale t pankreasit ,Tumoret e pankreasit
•Cistet pankreatike, Hemoragjite e pankreasit
•Akromegalia, Sindromi Cushing
•Feokromocitoma
•Glukagonoma
•Somatostatinoma
•Hiperaldosteronizmi primar
•Hipertiroidizmi
•Hemokromatoza
•Malnutricioni
•Medikamente dhe agjente kimike (p.sh. tiroksina, fenitoina)
•Rreth 25 sindroma te rralla gjenetike (p.sh. sindromi Down,
Sindromi Klinefelter). 15
Risku i larte per diabet
A ka te dhena trashegimie?
Vleresohet se ekziston nje grup genesh trashegimi i te cilave
predispozon shfaqjen e diabetit. Predispozite nuk do te thote shfaqje
e semundjes.
Faktoret qe shoqerohen me rrisk te larte per diabet:
– Mosha e kaluar
– Sindromi metabolik
– Toleranca e thyer ndaj glukozes
– Sindromi i ovarit polikistik
– Pacientet me histori per diabet te barres ose lindjen e bebeve
mbi 4kg
– Histori familjare per diabet
– Jeta sedentare
– BMI e larte (mbipeshe, obezitet)
– Obeziteti central
– Hipertension, Hiperlipidemi
– Pacientet qe marrin preparate si prednisoni apo antipsikotiket
16
Komplikacionet e diabetit
•Retinopati me progresion deri ne humbje te shikimit
•Nefropati qe mund te shkoje deri ne insuficience
renale
•Neuropati periferike e shoqeruar ne format e renda
me ulcera ne kembe, amputime etj.
•Neuropati autonome qe shkakton disfunksione
gastrointestinale, genitourinare, kardiovaskulare,
seksuale
•Incidence e larte e aterosklerozes kardiovaskulare, te
arterieve periferike dhe semundjeve cerebrovaskulare
•Incidence e larte e crregullimeve te metabolizmit te
lipoproteinave dhe hipertensionit 17
Identifikimi dhe parandalimi
Identifikimi
Identifikimi i pacientit diabetik permes testit te glicemise
esell, mjekimi dhe monitorimi agresiv i komplikacioneve
sidomos atyre kardiovaskulare shtojne jetegjatesine dhe
cilesine e jetes.
Parandalimi
Njohja e situates ndihmon ne parandalimin e
komplikacioneve. Permes kontrolleve ne mund te kapim
heret:
–Hiperglicemine esell (> 126mg/dl)
–tolerancen e thyer ndaj glukozes qe i referohen
gjendjeve metabolike te ndermjetme (midis normalit
dhe diabetikut) dhe rriskut te shtuar progresiv per
shfaqjen e diabetit 18
Depistimi per diabet ne persona
asimptomatike
•Testimi per prani te diabetit tip 2 ne popullate
asimptomatike duhet te merret ne konsiderate per
adultet e cdo moshe me mbipeshe ose obezitet dhe
qe kane 1 ose me shume faktore risku per diabet
•Ne personat adulte pa faktore risku testimi fillon pas
moshes 45 vjec
•Nese testimi eshte normal – perseritje cdo 3 vjet
•Ne ata qe rezultojne prediabetike, rekomandohet
identifikimi dhe trajtimi i semundjeve kardiovaskulare
19
Faktoret e rriskut shoqerues te
obezitetit qe predispozojne per diabet
•Inaktiviteti fizik
•Histori familjare(prinder, kusherinj te pare me diabet)
•Prejardhje racore/ etnike me risk te larte (p.sh.
afroamerikane, latine, ishujt e pacifikut etj)
•Gra qe kane lindur bebe me peshe mbi 4 kg
•Hipertensioni
•HDL kolesteroli i ulet, Trigliceridet e larta
•HbA1c ≥ 5.7%
•Kushte klinike te lidhura me rezistencen ndaj insulines
•Histori pozitive per prani te semundjeve
kardiovaskulare
•Sindroma klinike si ovari polikistik 20
Kriteret e depistimit per prani te
diabetit tip 2 ne femije
asimptomatike (nen 18 vjec)
•Mbipesha
–BMI > 85 percentile per moshen, dhe seksin
–Disproporcion peshe – gjatesi (> 85 perc.)
–Pesha > 120% e peshes ideale
•Plus dy nga faktoret e meposhtem te riskut
–Histori familjare (grade e pare, e dyte)
–Raca, etniciteti
–Shenja te rezistences ndaj insulines ose prani e kushteve
qe favorizojne rezistencen si hipertension, dislipidemi,
peshe e vogel ne lindje etj.
–Histori e nenes per diabet ose diabet te barres
•Fillimi i testimit - mosha 10 vjec ose fillimi i pubertetit;
perseritja cdo 3 vjet 21
Depistimi per diabetin e barres
• Ne grate shtatzana me faktor risku – testohet per
diabet ne viziten e pare
• Ne grate shtatzana qe nuk kane te dhena per
diabet – testimi ne javet 24 – 28
• Ne grate me diabet te barres – vazhdon testimi 6
– 12 jave pas lindjes duke perdorur testin e
ngarkeses
• Ne grate me histori per diabet barre –
rekomandohet testimi gjate gjithe jetes, cdo tre vjet
22
Testet e diagnozes
• Diabeti zakonisht diagnostikohet bazuar ne
perqendrimin plazmatik te glukozes, qofte esell
qofte pas testit te tolerances
• Glicemia esell e mengjesit eshte testi me i
mire fillestar
• Glukozuria dhe HbA1C nuk perdoren zakonisht
per qellim diagnostik
• Kohet e fundit eshte futur si opsion i trete
diagnostik HbA1c ≥ 6.5%
23
Kriteret e diagnozes sipas ADA
1. Glicemia esell ≥ 126mg/dL (7.0 mmol/l)
2. Glicemia 2 ore pas testit te ngarkeses me 75gr
glukoze ≥ 200 mg/dl (11.1mmol/l)
3. HbA1c ≥ 6.5% (48mmol/mol)
4. Glicemia “random” ≥ 200mg/dl ne individe me
simptoma te hiperglicemise dhe kriza hiperglicemike
Interpretimi
• Rezultat i paqarte? – testi perseritet me kampion tjeter
• Testi i perseritur pozitiv – diagnoza e konfirmuar
• Teste te ndryshme me rezultate mbi norme – diagnoza
e konfirmuar
• Rezultate diskordante te testeve te ndryshme –
perseritet testi me rezultat mbi norme
24
Rrisku i shtuar per diabet
Prediabeti
Per te gjitha testet risku eshte i pranishem ne te gjithe
diapazonin e vlerave por me i larte ne vlerat e larta.
25
Glukoza esell Glicemi 2 ore
pas ngarkeses
HbA1c
100 – 125 mg/dl
(5.6 – 6.9 mmol/l)
Tolerance e thyer
140 – 199 mg/dl
(7.8 – 11 mmol/l)
Tolerance e thyer
5.7 – 6.4%
(39 – 46 mmol/mol)
Metoda e matjes se glukozes
Per matjen e perqendrimit te glukozes ne gjak,sot
perdoret metoda me glukoze oksidaze qe
shfrytezon reaksionin:
Glukoze + O2 → D-glukono 1.5-lactone + H2O2
Perqendrimi i glukozes percaktohet duke matur
sasine e H2O2
te prodhuar nga bashkeveprimi i
glukozes me enzimen. Per te realizuar kete matje,
ne perzjerjen e reaksionit shtohet dhe enzima
peroksidaze dhe nje substrat specifik qe duke
reaguar me H2O2
formojne nje produkt me ngjyre.
Intensiteti i ngjyrimit matet ne spektrofotometer dhe
eshte proporcional me perqendrimin e glukozes.
26
Glicemia esell
• Matja e glukozes esell jep informacion per
aftesine e nivelit bazal te insulines per kontrollin
e glikogjenolizes dhe glukoneogjenezes.
• Kur prodhimi bazal (ose veprimi) i insulines eshte
i pamjaftueshem, kemi hiperglicemi esell.
Pregatitja e pacientit
• Gjaku per dozimin e glicemise merret ne
mengjes, esell. Diten perpara ekzaminimit
pacienti perdor dieten e zakonshme, ha nje
darke te lehte rreth ores 19. Eshte e
rendesishme qe te pakten pas mesnate te mos
marre ushqim (8 ore).
27
Konsiderata preanalitike
• Gjaku duhet te centrifugohret brenda 30 min pasi
eritrocitet bejne glikolize. Ritmi i glikolizes ex vivo
raportohet 5 – 7% ne ore;d.m.th. perqendrimi i
glukozes ne kampion ulet rreth 10mg/dl ne ore.
Kjo con ne gabime diagnostike (pacienti diabetik
referohet normal)
• Nese nuk mundemi te bejme centrifugim te
shpejte, gjakun e marrim me sodium florid qe
frenon glikolizen.
• Glicemia matet dhe ne gjakun total – testet e
shpejta; perqendrimi i glukozes eshte rreth 11%
me i larte ne plazem se ne gjakun total
(hematokrit normal) 28
Glicemia esell
Interpretimi
• Vlerat e glicemise <105mg/dL konsiderohen
normale. (rekomandimet e reja japin vleren 100 si
kufi te normes)
• Vlerat nga 105 – 125mg/dL flasin ndofta per nje
tolerance te thyer per glukoze ; ne kete rast ka
indikacion per kryerjen e proves se ngarkeses me
glukoze.
• Glicemia > 126mg/dL ne dy matje te perseritura
flet per pranine e diabetit.
• Ka nje lidhje direkte midis kontrollit te glicemise
dhe riskut per komplikacione renale, retinale dhe
neurologjike.
29
Vetemonitorimi i glicemise
•Realizohet nga vete pacienti me glukometer
•Rekomandohet per te gjithe pacientet qe trajtohen
me insuline; testi duhet bere 3 here ne dite
•Ne pacientet me diabet tip2 te trajtuar me diete dhe
preparate orale monitorimi ndihmon per nje kontroll
me te mire.
•Pacientet duhen instruktuar per perdorimin korrekt
te glukometrit perfshi dhe kontrollin e kualitetit
30
Prova e ngarkeses me glukoze
Testi mat aftesine sekretuese dhe pergjigjen ne
kohe te qelizave prodhuese te insulines ndaj
sinjaleve te integruar te hormoneve
gastrointestinale dhe shtimit te perqendrimit te
glukozes plazmatike.
75g glukoze perdoren si ngarkese ne kete test.
Ato nuk perbejne nje vakt normal ushqimi por
bejne qe testi te kete ndjeshmeri maksimale dhe
te perdoret per qellime diagnostike dhe
epidemiologjike.
31
Pregatitja e pacientit
 Pacienti vendoset per 3 dite ose me shume ne nje
diete normale qe permban te pakten 150g
karbohidrate ne dite. Ne mengjes esell (12-14 ore
pa ushqim), pacientit i jepet te pije nje solucion ku
eshte tretur 75 g glukoze e paster. Pacienti duhet
ta pije perzjerjen brenda 5 minutash.
 Gjaku merret ne kohen 0 (para pirjes se glukozes)
dhe ne minuten 120. Ne pacientet me
malabsorbim, pacienti mund ta marre intravene
solucionin e glukozes.
32
Interpretimi i testit te ngarkeses
Normal Tolerance
e thyer
Diabet
Koha 0 <100 100 – 126 ≥ 126
120 min <140 140 – 200 ≥ 200
33
34
Interpretimi i testit te ngarkeses
35
Ketoacidoza diabetike
•Ketoacidoza diabetike eshte urgjence mjekesore.
•Faktoret me te shpeshte precipitues qe shkaktojne
crregullimin e balances energjitike dhe shfaqjen e
ketoacidozes ne nje pacient diabetik jane, infeksioni,
infarkti i miokardit, trauma, mosmarrja e insulines.
•Trajtimi i ketoacidozes diabetike behet me lengje
intravenoze, insuline dhe kalium.
36
Ketoza reflekton perdorimin e shtuar te yndyrnave si
burim energjie per shkak te deficitit intraqelizor te
glukozes ose aktivitetit insulinik te ulur.
Aktiviteti i ulur i insulines ne nje pacient diabetik shton
ritmin e prodhimit te substrateve te glukoneogjenezes
dhe glukoneogjenezen hepatike.
Ne gjendje urije ky fenomen kontribuon ne rritjen e
glicemise dhe te perdorimit te saj energjitik ne inde.
Ne nje pacient diabetik shton hiperglicemine (glukoza
nuk futet ne qelize) dhe prodhimin e perdorimin indor
te trupave ketonike.
Trupat ketonike mund te testohen:
– ne gjak (ketonemia)
–ne urine ( ketonuria)
37
Insulina
• Insulina eshte hormoni kryesor qe ndikon ne nivelet
e glukozes ne gjak.
• Ajo prodhohet ne qelizat beta te ishujve
Langerhans te pankreasit dhe vepron permes
receptoreve membranore ne indet « shenje » te
veprimit te saj sic jane melcia, muskujt dhe indi
dhjamor duke futur glukozen ne qelize.
• Insulina sinjalizon gjendjen e ushqyerjes.
• Ajo aktivizon rruget dhe proceset e perfshira ne
depozitimin e rezervave energjitike ne qelize dhe
frenon rruget katabolike.
38
Shtimi i glukozes ne gjak pas ushqyerjes detektohet
nga qelizat beta te cilat prodhojne insuline
Insulina nxit : Insulina frenon :
• Kapjen e glukozes ne
muskuj dhe ind dhjamor
• Glikolizen
• Sintezen e glikogjenit
• Sintezen e proteinave
• Kapjen e joneve (sidomos
K+ dhe PO4
3-
)
• Glukoneogjenezen
• Zberthimin e glikogjenit
• Lipolizen
• Ketogjenezen
• Proteolizen
39
• Insulina sintetizohet si proinsuline. Ai perbehet nga
peptide A,B dhe C. Ne ishujt beta te pankreasit,
proinsulina shnderrohet ne insulin pas shkeputjes se
peptidit C. Insulina dhe peptidi C sekretohen ne sasi
ekuimolekulare. Gjysme jeta e peptidit C eshte me e gjate
se e insulines. Po ashtu, peptidi C nuk vepron me
antikorpet antitiroidiene.
• Insulina sintetizohet me teknologjine rikombinante te ADN
per qellime terapeutike.
• Dozimi i peptidit C dhe insulines nuk ka vlere te madhe
per diagnozen e diabetit. Testet kane vlere per
klasifikimin e diabetit dhe qellime kerkimore.
• Dozimi i peptidit C ka vlere te madhe per te
percaktuar kapacitetin residual sekretor te qelizave
beta tek pacientet me terapi te ndryshme perfshi dhe
insulinen.
40
Glukozuria
• Glukoza shfaqet ne urine kur glicemia kalon 180mg/dL ne gjak
(kalon pragun renal). Testi me i zakonshem, eshte ai gjysme sasior
(testi rutine i analizes se urines). Tek nje diabetik, zakonisht gjejme
glukozuri 0.5 – 2 g/dL
• Ka dhe nje seri shkaqesh jodiabetike qe mund te shoqerohen me
glukozuri
• Nuk rekomandohet si rutine monitorimi
41
Glukozuri pa
hiperglicemi
Glukozuri me hiperglicemi
Shtatzania
Sindromi Fanconi
Glukozuria renale
Sindromi nefrotik
Tirotoksikoze
Sindrom Kushing
Demtimi i SNQ
Infeksioni
Anestezia
Eksitimi dhe stresi
Hemoglobina e glukozuar
HbA1c
• Hemoglobina A ne qarkullim ( gjysme jeta e RBC eshte 120
dite);glikozilohet permes nje reaksioni joenzimatik te
pakthyeshem.
• Shkalla e glikozilimit eshte proporcionale me perqendrimin e
glukozes ne gjak.
• Perqendrimi i hemoglobines se glukozuar reflekton glikozilimin
e Hb gjate 120 diteve dhe rrjedhimisht perqendrimin e
glukozes ne gjak gjate kesaj periudhe.
• Dozimi i hemoglobines se glukozuar eshte nje test
retrospektiv me vlere te pazevendesueshme ne
monitorimin e terapise ne diabet per 6-8 javet e fundit.
• HbA1c 3,8 – 6,3 %
• Pacientet me hemolize kane vlere me te ulur te HbA1c per
shkak te gjysme jetes me te shkurter te eritrociteve.
• Dozimi i HbA1c te pakten 2 here ne vit eshte i detyruar per te
gjithe pacientet diabetike per vleresimin e kontrollit te
glicemise 42
Markuesit gjenetike
Matja ne rutine e markuesve gjenetike nuk ka vlere
per diagnozen ose menazhimin e diabetit tip1.
Per disa sindroma diabetike si diabeti neonatal
mund te kete vlere informacioni i fituar nga
percaktimi i mutacioneve
Testet gjenetike nuk kane vlere per diagnozen e
diabetit tip2.
43
Markuesit autoimune
Antikorpet ndaj ishujve te pankreasit
rekomandohen ne skrinimin e familjareve
jodiabetike qe duan te dhurojne pjese te pankreasit
te tyre per transplant.
Nuk rekomandohen per diagnozen rutine te diabetit
por mund te perdoren per klasifikimin e diabetit ne
te rriturit dhe ne studimet prospektive te femijeve
me risk gjenetik per diabet tip1 pas tipizimit te HLA.
Depistimi i diabetikeve tip2 per Ac ndaj ishujve te
pankreasit nuk eshte i rekomanduar.
44
Testet laboratorike per te parandaluar
shfaqjen e komplikacioneve te diabetit
• Diabetiket zakonisht vdesin prej komplikacioneve
makrovaskulare qe shkakton diabeti – semundjet
kardiovaskulare
• Kjo influencohet nga faktoret e njohur te rriskut per
CAD dhe kontrolli i glicemise
• Lipidograma esell rekomandohet cdo tre muaj deri
ne stabilizim dhe me pas cdo 6 - 12 muaj
• Menazhimi eshte individual
• Testet monitoruese:
• Kolesterol total
• Triglicerid
• HDL dhe LDL kolesterol
• HbA1c
45
Albuminuria - mikroalbuminuri
• Mikroalbuminuria ne pacientet diabetike eshte e lidhur me
riskun e larte per semundje kardiovaskulare;
Makroalbuminuria (>300mg/dite) shoqerohet me semundje
renale qe mund te progresoje ne insuficience renale
terminale.
• Testimi vjetor i pacienteve pa proteinuri klinike duhet te
filloje ne periudhen pubertale ose postpubertale 5 vjet pas
diagnozes se diabetit tip1 dhe ne kohen e diagnozes per
diabet tip2.
• Perqendrimi i albumines ne urine ≥ 30mg/g kreatinine
konsiderohet risk per semundje kardiovaskulare.
• Perqendrimi i ulet i albumines ne urine nuk shoqerohet me
risk kardiovaskular nese eGFR eshte >60ml/min dhe ne
paciente normotensive; ne pacientet me hipertension,
eGFR<60 dhe albuminuri < 30mg/g Cre ne nje kampion
urine – rekomandohet perseritja e testit brenda vitit.
46
Semundja diabetike renale
Rruga me e mire per te testuar komplikacionet renale ne nje
diabetik eshte testimi i raportit te ekskretimit
albumine/kreatinine. (ACR), kreatinines plazmatike dhe GFR.
Keto teste behen ne cdo pacient te diagnostikuar me diabet
dhe perseriten te pakten cdo vit; me shpesh ne paciente me
proteinuri, mikroalbuminuri apo GFR te reduktuar
47
Stadi Pershkrimi GFR
(ml/min/1.73m2)
1 Demtim renal me GFR N ose ↑ ≥ 90
2 Demtim renal me GFR pak te ulur 60 – 89
3 Ulje e moderuar e GFR 30 – 59
4 Ulje e rende e GFR 15 – 29
5 Insuficience renale < 15 ose dialize
Semundja diabetike renale
Raporti Albumin:Creatinine (ACR)
– ACR vlereson ekskretimin ditor urinar te
albumines
– Microalbuminuria nuk mund te detektohet me
stripet e zakonshme te urines
– Microalbuminuria eshte ekskretimi urinar i
albumines ndermjet30 dhe 300 mg/dite; mbi
300mg/dite kemi proteinuria.
– ACR matet zakonisht ne urinen e pare te mengjesit
– Rezultati jonormal duhet te konfirmohet ne dy
perseritje
48
Konkluzione
•Dozimi i glukozes esell ne gjak eshte testi me i
mire fillestar per diagnozen e diabetit
•Testi i tolerances se glukozes perdoret vetem ne
subjekte qe kane vlera ekuivoke te glicemise esell
 •Pacientet e diagnostikuar me tolerance te thyer te
glukozes perfitojne nga nderhyrja ne stiline jetes
dhe kontrolli vjetor i glicemise
•HbA1C eshte testi me i mire per kontrollin dhe
monitorimin e nje pacienti diabetik
•Pacientet diabetike perfitojne nga monitorimi
agresiv dhe menazhimi i faktoreve te rriskut
kardiovaskular

Prof. Asc. Etleva Refatllari

Viti shkollor 2019 - 2020
DIAGNOZA DHE MONITORIMI
LABORATORIK I DIABETIT
1
C’eshte diabeti?
• Diabeti – grup crregullimesh metabolike qe karakterizohet
nga hiperglicemia e shkaktuar nga defektet ne sekretimin
e insulines, veprimin e insulines ose ne te dyja
• Hiperglicemia kronike jep demtime dhe crregullime te
funksionit te organeve te ndryshme vecanerisht ne sy,
veshka, nerva, zemer dhe enet e gjakut
• Semundje kronike qe kerkon monitorim dhe kujdes
mjekesor te vazhdueshem me:
• Kontroll te glicemise
• Strategji per reduktimin e riskut multifaktorial
• Edukimi i pacientit per vetemonitorim eshte kritik per
parandalimin e komplikacioneve akute dhe reduktimin e
riskut per komplikacione afatgjata te shendetit.
Prof. Asc. Etleva Refatllari
2
Klasifikimi i diabetit
Prof. Asc. Etleva Refatllari
3
Diabet i tipit 1
a) Mekanizem imun
b) Idiopatik
Diabet i tipit 2
Diabeti i barres
Tipe te tjera diabeti
a) Defekte gjenetike ne funksionin e qelizave beta
b) Defekte gjenetike ne funksionin e insulines
c) Semundje te pankreasit ekzokrin
d) Endokrinopati
e) Diabet i induktuar nga medikamente ose produkte kimike
f) Diabet i induktuar nga infeksione
g) Forma imune
h) Sindroma gjenetike qe shoqerohen me diabet
Diabeti i tipit te pare
•Shenjat e para ky tip i diabetit i jep qe ne femijeri
ose adoleshence – diabeti juvenil
•Diabeti i tipit te pare eshte nje semundje
autoimune qe shoqerohet me shkaterrim te
qelizave beta te pankreasit ku prodhohet insulina
– diabet insulinovartes
•Trajtimi i vetem ne kete forme diabeti eshte
injektimi i rregullt i insulines per te kompensuar
mos prodhimin ose prodhimin e reduktuar
Prof. Asc. Etleva Refatllari
4
Diabeti i tipit te pare
Te dhenat klinike
• Diagnostikohet ne moshe te re (piku i diagnozes ne
moshen e pubertetit)
• Pacientet zakonisht kane etje te shtuar, urinim te
shpeshte, humbje ne peshe dhe dobesi (pakesim te
energjive)
• Shpesh ka histori pozitive per pranine e diabetit ne familje
(jo gjithnje)
• Shpesh shoqerohet me demtim autoimun te organeve te
ndryshme endokrine (hipotiroze, hipoadrenalizem)
• Varesi gjate gjithe jetes nga insulina
• Progresion drejt ketozes (kur nuk mjekohet mire)
• Pacientet shpesh paraqiten me simptoma akute te
diabetit, hiperglicemi shume te larte, ne disa raste me
forma te renda ketoacidoze (ne rrezik jete)
Prof. Asc. Etleva Refatllari
5
Diabeti i tipit te pare
Te dhenat laboratorike
•Glicemia esell e larte (>126mg/dL)
•Glukozuri
•Shpesh gjejme ketonuri ose ketonemi
•Ulet perqendrimi i insulines
•Rritet perqendrimi i hemoglobines se glukozuar
•Ka prani te antikorpeve kunder ishujve te
pankreasit (gjenden shpesh pas vitit te pare te
diagnozes)
•Gjejme prevalence e larte e antigeneve HLADR3 dhe DR4
Prof. Asc. Etleva Refatllari
6
Diabeti i tipit te dyte
Prof. Asc. Etleva Refatllari
7
• Diabeti i tipit te dyte shfaqet ne pergjithesi ne
moshen adulte – Diabet i te rriturve
• Eshte rezultat i uljes se sekretimit te insulines e
cila eshte gjithashtu me pak efikase ne veprim.
Shkak eshte rezistenca e indeve periferike ndaj
insulines – Diabet insulinorezistent,
joinsulinovartes
• Trajtimi eshte kompleks dhe perfshin rregullimin e
higjenes se jeteses (menyren e ushqyerjes, stilin
e jetes etj.) si dhe trajtime medikamentoze
(preparate hipoglicemiante, insuline).
Diabeti i tipit te dyte
Prof. Asc. Etleva Refatllari
8
Te dhena klinike
• Zakonisht nuk ka simptoma te hershme; ka nje faze
presimptomatike te gjate para diagnozes (prediabet)
• Diagnostikohet zakonisht pas moshes 40 vjec; eshte ulur
mosha e shfaqjes; diagnostikohet dhe ne moshat 30 – 40
vjec
• Shpesh shoqerohet me obezitet
• Historia familjare shume prezente
• Shpesh diagnostikohet pas instalimit te komplikacioneve
(p.sh. Kardiake)
• Shenjat te ngjashme me diabetin tip 1
• Pergjithesisht rezistente ndaj ketozes; ketoza mund te
zhvillohet vetem ne situata te caktuara stresi
• Rezistence ndaj veprimeve te insulines
Diabeti i tipit te dyte
Prof. Asc. Etleva Refatllari
9
Te dhenat laboratorike
• Glukoze esell e larte (>126mg/dL)
• Testi i tolerances jonormal
• Glukozuri (variabel)
• Hemoglobina e glukozuar e shtuar
• Nivele te ndryshme te insulines
• Ulje e numrit te receptoreve te insulines ne inde te
ndryshme.
Rezistenca ndaj insulines
•Rezistenca ndaj insulines eshte nje situate e
lidhur kryesisht me mbipeshen ne te cilen
muskuli, hepari dhe indi dhjamor nuk e perdorin
me efikasitet insulinen.
•Si rezultat organizmi kerkon me shume insuline
per te futur glukozen ne qeliza.
•Ne fillim pankreasi adaptohet duke prodhuar me
shume insuline; me kalimin e kohes pankreasi
humbet aftesine per te prodhuar mjaftueshem
insuline pas ngrenieve. Rezultati eshte
hiperglicemia.
Prof. Asc. Etleva Refatllari
10
Diabeti i barres
•Diabeti i shfaqur vetem gjate shtatzanise.
•Zhvillohet ne rreth 7% te shtatzanive dhe ngjan
me diabetin e tipit te dyte
•Shton riskun per komplikacione fetale dhe te
nenes gjate shtatzanise dhe lindjes
•Gruaja mund te shfaqe me vone diabet te tipit te
dyte
•Rekomandohet depistimi ne te gjitha grate ne
javen 24 – 28 te barres
•Testet e skrinimit jane glicemia esell dhe dy ore
pas ushqimit
Prof. Asc. Etleva Refatllari
11
Diabeti i barres
•Hormonet qe prodhohen gjate shtatzanise rrisin
sasine e insulines qe kerkohet per te kontrolluar
perqendrimin e glukozes ne gjak.
•Nese organizmi nuk i pergjigjet nevojes se shtuar
per insuline, gruaja mund te zhvilloje diabet ne
fazat e vona te shtatzanise.
•Kjo forme diabeti zakonisht zhduket pas lindjes.
•Ne 5 – 10% te grave me diabet te barres, glicemia
pas lindjes mbetet e larte; diabet i tipit 2
•Femijet qe lindin nga nena me diabet te barres,
jane me te prekur nga obeziteti dhe diabeti i tipit 2.
Prof. Asc. Etleva Refatllari
12
Toleranca e thyer ndaj glukozes
•Gjendje prediabetike
•Hiperglicemi (100 – 126 mg/dl) qe shoqerohet me
rezistence ndaj insulines dhe risk te larte per
semundje kardiovaskulare
•Mund te paraprije diabetin e tipit te dyte per disa
vjet
•Zhvillohet zakonisht ne mosha te shkuara
•Diagnoza vendoset me teste biokimike pasi
mungon simptomatologjia
Prof. Asc. Etleva Refatllari
13
Sindroma qe shoqerohen me hiperglicemi
• Heqja kirurgjikale e pankreasit ; Tumoret e pankreasit
• Cistet pankreatike, Hemoragjite e pankreasit
• Akromegalia, Sindromi Cushing
• Feokromocitoma
• Glukagonoma
• Somatostatinoma
• Hiperaldosteronizmi primar
• Hipertiroidizmi
• Hemokromatoza
• Malnutricioni
• Medikamente dhe agjente kimike (p.sh. tiroksina, fenitoina)
• Rreth 25 sindroma te rralla gjenetike (p.sh. sindromi Down,
Sindromi Klinefelter).
Prof. Asc. Etleva Refatllari
14
Risku i larte per diabet
A ka te dhena trashegimie?
Vleresohet se ekziston nje grup genesh trashegimi i te cilave
predispozon shfaqjen e diabetit. Predispozite nuk do te thote
shfaqje e semundjes.
Faktoret qe shoqerohen me risk te larte per diabet:
• Mosha e kaluar
• Sindromi metabolik
• Toleranca e thyer ndaj glukozes
• Sindromi i ovarit polikistik
• Pacientet me histori per diabet te barres ose lindjen e
bebeve mbi 4kg
• Histori familjare per diabet
• Jeta sedentare
• BMI e larte (mbipeshe, obezitet)
• Obeziteti central
• Hipertension, Hiperlipidemi
• Pacientet qe marrin preparate si prednisoni apo
antipsikotiket
Prof. Asc. Etleva Refatllari
15
Komplikacionet e diabetit
• Retinopati me progresion deri ne humbje te shikimit
• Nefropati qe mund te shkoje deri ne insuficience
renale
• Neuropati periferike e shoqeruar ne format e renda
me ulcera ne kembe, amputime etj.
• Neuropati autonome qe shkakton disfunksione
gastrointestinale, genitourinare, kardiovaskulare,
seksuale
•Incidence e larte e aterosklerozes kardiovaskulare, te
arterieve periferike dhe semundjeve cerebrovaskulare
•Incidence e larte e crregullimeve te metabolizmit te
lipoproteinave dhe hipertensionit
Prof. Asc. Etleva Refatllari
16
Depistimi per diabet ne persona
asimptomatike
• Testimi per prani te diabetit tip 2 ne popullate
asimptomatike duhet te merret ne konsiderate per
adultet e cdo moshe me mbipeshe ose obezitet dhe
qe kane 1 ose me shume faktore risku per diabet
• Ne personat adulte pa faktore risku testimi fillon pas
moshes 45 vjec
• Nese testimi eshte normal – perseritje cdo 3 vjet
• Ne ata qe rezultojne prediabetike, rekomandohet
identifikimi dhe trajtimi i semundjeve kardiovaskulare
Prof. Asc. Etleva Refatllari
17
Faktoret e riskut shoqerues te
obezitetit qe predispozojne per diabet
• Inaktiviteti fizik
• Histori familjare(prinder, kusherinj te pare me diabet)
• Prejardhje racore/ etnike me risk te larte (p.sh.
afroamerikane, latine, ishujt e pacifikut etj)
• Gra qe kane lindur bebe me peshe mbi 4 kg
• Hipertensioni
• HDL kolesteroli i ulet, Trigliceridet e larta
• HbA1c ≥ 5.7%
• Kushte klinike te lidhura me rezistencen ndaj insulines
• Histori pozitive per prani te semundjeve kardiovaskulare
• Sindroma klinike si ovari polikistik
Prof. Asc. Etleva Refatllari
18
Kriteret e depistimit per prani te diabetit tip 2
ne femije asimptomatike (nen 18 vjec)
• Mbipesha
–BMI > 85 percentile per moshen, dhe seksin
–Disproporcion peshe – gjatesi (> 85 perc.)
–Pesha > 120% e peshes ideale
• Plus dy nga faktoret e meposhtem te riskut
–Histori familjare (grade e pare, e dyte)
–Raca, etniciteti
–Shenja te rezistences ndaj insulines ose prani e kushteve
qe favorizojne rezistencen si hipertension, dislipidemi,
peshe e vogel ne lindje etj.
–Histori e nenes per diabet ose diabet te barres
• Fillimi i testimit - mosha 10 vjec ose fillimi i pubertetit;
perseritja cdo 3 vjet
Prof. Asc. Etleva Refatllari
19
Depistimi per diabetin e barres
• Ne grate shtatzana me faktor risku – testohet
per diabet ne viziten e pare
• Ne grate shtatzana qe nuk kane te dhena per
diabet – testimi ne javet 24 – 28
• Ne grate me diabet te barres – vazhdon testimi
6 – 12 jave pas lindjes duke perdorur testin e
ngarkeses
• Ne grate me histori per diabet barre
rekomandohet testimi gjate gjithe jetes, cdo tre
vjet
Prof. Asc. Etleva Refatllari
20
Testet e diagnoses dhe monitorimit
• Diabeti zakonisht diagnostikohet bazuar ne
perqendrimin plazmatik te glukozes, qofte esell
qofte pas testit te tolerances
• Glicemia esell e mengjesit eshte testi me i
mire fillestar
• Glukozuria nuk perdoret zakonisht per qellim
diagnostik
• Kohet e fundit eshte futur si opsion i trete
diagnostik HbA1c ≥ 6.5%
Prof. Asc. Etleva Refatllari 21
Kriteret e diagnozes sipas ADA
1. Glicemia esell ≥ 126mg/dL (7.0 mmol/l)
2. Glicemia 2 ore pas testit te ngarkeses me 75gr
glukoze ≥ 200 mg/dl (11.1mmol/l)
3. HbA1c ≥ 6.5% (48mmol/mol)
4. Glicemia “random” ≥ 200mg/dl ne individe me
simptoma te hiperglicemise dhe kriza hiperglicemike
Interpretimi
• Rezultat i paqarte? – testi perseritet me kampion tjeter
• Testi i perseritur pozitiv = diagnoza e konfirmuar
• Teste te ndryshme me rezultate mbi norme =
diagnoza e konfirmuar
• Rezultate diskordante te testeve te ndryshme →
perseritet testi me rezultat mbi norme
Prof. Asc. Etleva Refatllari 22
Risku i shtuar per diabet - Prediabeti
Per te gjitha testet risku eshte i pranishem ne te gjithe
diapazonin e vlerave por me i larte ne vlerat e larta.
Prof. Asc. Etleva Refatllari
23
Glukoza esell Glicemi 2 ore
pas ngarkeses
HbA1c
100 – 125 mg/dl
(5.6 – 6.9 mmol/l)
Tolerance e thyer
140 – 199 mg/dl
(7.8 – 11 mmol/l)
Tolerance e thyer
5.7 – 6.4%
(39 – 46 mmol/mol)
Metoda e matjes se glukozes
•Per matjen e perqendrimit te glukozes ne gjak,sot
perdoret metoda me glukoze oksidaze qe
shfrytezon reaksionin:
•Glukoze + O2 → D-glukono 1.5-lactone + H2O2
•Perqendrimi i glukozes percaktohet duke matur
sasine e H2O2
te prodhuar nga bashkeveprimi i
glukozes me enzimen. Per te realizuar kete
matje, ne perzjerjen e reaksionit shtohet dhe
enzima peroksidaze dhe nje substrat specifik qe
duke reaguar me H2O2
formojne nje produkt me
ngjyre. Intensiteti i ngjyrimit matet ne
spektrofotometer dhe eshte proporcional me
perqendrimin e glukozes.
Prof. Asc. Etleva Refatllari 24
Glicemia esell
• Matja e glukozes esell jep informacion per aftesine
e nivelit bazal te insulines per kontrollin e
glikogjenolizes dhe glukoneogjenezes.
• Kur prodhimi bazal (ose veprimi) i insulines eshte i
pamjaftueshem, kemi hiperglicemi esell.
Pregatitja e pacientit
• Gjaku per dozimin e glicemise merret ne mengjes,
esell. Diten perpara ekzaminimit pacienti perdor
dieten e zakonshme, ha nje darke te lehte rreth
ores 19. Eshte e rendesishme qe te pakten pas
mesnate te mos marre ushqim (8 ore).
Prof. Asc. Etleva Refatllari
25
Konsiderata preanalitike
• Gjaku duhet te centrifugohret brenda 30 min pasi
eritrocitet bejne glikolize. Ritmi i glikolizes ex vivo
raportohet 5 – 7% ne ore; d.m.th. perqendrimi i
glukozes ne kampion ulet rreth 10mg/dl ne ore.
Kjo con ne gabime diagnostike (pacienti diabetik
referohet normal)
• Nese nuk mundemi te bejme centrifugim te
shpejte, gjakun e marrim me sodium florid qe
frenon glikolizen.
• Glicemia matet dhe ne gjakun total me testet e
shpejta (stripet e glicemise); perqendrimi i
glukozes eshte rreth 11% me i larte ne plazem se
ne gjakun total (hematokrit normal)
Prof. Asc. Etleva Refatllari
26
Glicemia esell – Interpretimi i vlerave
• Vlerat e glicemise <105mg/dL konsiderohen normale.
(rekomandimet e reja japin vleren 100 si kufi te
normes)
• Vlerat nga 106 – 125mg/dL flasin ndofta per nje
tolerance te thyer per glukoze ; ne kete rast ka
indikacion per kryerjen e proves se ngarkeses me
glukoze.
• Glicemia > 126mg/dL ne dy matje te perseritura flet
per pranine e diabetit.
• Ka nje lidhje direkte midis kontrollit te glicemise dhe
riskut per komplikacione renale, retinale dhe
neurologjike.
Prof. Asc. Etleva Refatllari 27
Vetemonitorimi i glicemise
•Realizohet nga vete pacienti me glukometer
•Rekomandohet per te gjithe pacientet qe trajtohen
me insuline; testi duhet bere 3 here ne dite
•Ne pacientet me diabet tip2 te trajtuar me diete
dhe preparate orale monitorimi ndihmon per nje
kontroll me te mire.
•Pacientet duhen instruktuar per perdorimin korrekt
te glukometrit perfshi dhe kontrollin e kualitetit
Prof. Asc. Etleva Refatllari
28
Prova e ngarkeses me glukoze
• Testi mat aftesine sekretuese dhe pergjigjen ne
kohe te qelizave prodhuese te insulines ndaj
sinjaleve te integruar te hormoneve
gastrointestinale dhe shtimit te perqendrimit te
glukozes plazmatike.
• 75g glukoze perdoren si ngarkese ne kete test.
Ato nuk perbejne nje vakt normal ushqimi por
bejne qe testi te kete ndjeshmeri maksimale
dhe te perdoret per qellime diagnostike dhe
epidemiologjike.
Prof. Asc. Etleva Refatllari
29
Pregatitja e pacientit
• Pacienti vendoset per 3 dite ose me shume ne nje
diete normale qe permban te pakten 150g
karbohidrate ne dite. Ne mengjes esell (12-14 ore
pa ushqim), pacientit i jepet te pije nje solucion ku
eshte tretur 75 g glukoze e paster. Pacienti duhet
ta pije perzjerjen brenda 5 minutash.
• Gjaku merret ne kohen 0 (para pirjes se glukozes)
dhe ne minuten 120. Ne pacientet me
malabsorbim, pacienti mund ta marre intravene
solucionin e glukozes.
Prof. Asc. Etleva Refatllari 30
Interpretimi i testit te ngarkeses
• Vlerat ne tabele jane ne “mg/dl”, njesi tradicionale qe akoma
perdoret gjeresisht ne klinike
• 100 apo 105 eshte kufiri maksimal i normes? Tek ne perdoret vlera
105; ka shoqata diabetologjike qe rekomandojne vleren 100.
Prof. Asc. Etleva Refatllari
31
Normal
(mg/dl)
Tolerance e thyer
(mg/dl)
Diabet
(mg/dl)
Koha 0 <100 100 – 126 ≥ 126
120 min <140 140 – 200 ≥ 200
Interpretimi i testit te ngarkeses
Prof. Asc. Etleva Refatllari
32
Ketoacidoza diabetike
•Ketoacidoza diabetike eshte urgjence mjekesore.
•Faktoret me te shpeshte precipitues qe shkaktojne
crregullimin e balances energjitike dhe shfaqjen e
ketoacidozes ne nje pacient diabetik jane,
infeksioni, infarkti i miokardit, trauma, mosmarrja e
insulines.
•Trajtimi i ketoacidozes diabetike behet me lengje
intravenoze, insuline dhe kalium.
Prof. Asc. Etleva Refatllari 33
• Ketoza reflekton perdorimin e shtuar te yndyrnave si
burim energjie per shkak te deficitit intraqelizor te
glukozes ose aktivitetit insulinik te ulur.
• Aktiviteti i ulur i insulines ne nje pacient diabetik shton
ritmin e prodhimit te substrateve te glukoneogjenezes
dhe glukoneogjenezen hepatike.
• Ne gjendje urije ky fenomen kontribuon ne rritjen e
glicemise dhe te perdorimit te saj energjitik ne inde.
• Ne nje pacient diabetik shton hiperglicemine (glukoza
nuk futet ne qelize) dhe prodhimin e perdorimin indor te
trupave ketonike.
• Trupat ketonike mund te testohen:
• ne gjak (ketonemia)
• ne urine ( ketonuria)
Prof. Asc. Etleva Refatllari 34
Insulina
•Insulina eshte hormoni kryesor qe ndikon ne nivelet
e glukozes ne gjak.
•Ajo prodhohet ne qelizat beta te ishujve
Langerhans te pankreasit dhe vepron permes
receptoreve membranore ne indet « shenje » te
veprimit te saj sic jane melcia, muskujt dhe indi
dhjamor duke futur glukozen ne qelize.
•Insulina sinjalizon gjendjen e ushqyerjes.
•Ajo aktivizon rruget dhe proceset e perfshira ne
depozitimin e rezervave energjitike ne qelize dhe
frenon rruget katabolike.
Prof. Asc. Etleva Refatllari 35
Shtimi i glukozes ne gjak pas ushqyerjes detektohet
nga qelizat beta te cilat prodhojne insuline
Insulina nxit : Insulina frenon :
• Kapjen e glukozes ne muskuj
dhe ind dhjamor
• Glikolizen
• Sintezen e glikogjenit
• Sintezen e proteinave
• Kapjen e joneve (sidomos K
+
dhe PO4
3-
)
• Glukoneogjenezen
• Zberthimin e glikogjenit
• Lipolizen
• Ketogjenezen
• Proteolizen
Prof. Asc. Etleva Refatllari 36
Insulina dhe Peptidi
C
Insulina sintetizohet si
proinsuline. Ajo perbehet nga
peptidet A,
B dhe
C
.
Ne ishujt beta te pankreasit
,
proinsulina shnderrohet ne
insuline pas shkeputjes se
peptidit
C.
Insulina dhe peptidi
C
sekretohen ne sasi
ekuimolekulare.
Gjysme jeta
e peptidit
C eshte
me
e gjate se
e insulines
.
Po ashtu
, peptidi
C nuk vepron
me antikorpet antitiroidiene
.
Prof. Asc. Etleva Refatllari 37
Insulina dhe Peptidi C
• Struktura primare e insulines humane ngjan me insulinat e
specieve te tjera; mbetjet aa jane pothuaj identike ne te gjitha
pozicionet me perjashtim te pozicioneve A8, A9, A10, B30.
Megjithe diferencat ne keto pozicione, funksioni biologjik eshte
i njejte.
• Diferencat strukturore mund te nxisin pergjigje imune (prodhim
te antikorpeve antiinsuline) kur pacienti diabetik trajtohet me
insuline te derrit apo te kaut; per pasoje pacienti zhvillon
rezistence ndaj insulines
• Insulina sintetizohet sot me teknologjine rikombinante te ADN
per qellime terapeutike.
• Dozimi i peptidit C dhe insulines nuk ka vlere te madhe per
diagnozen e diabetit. Testet kane vlere per klasifikimin e
diabetit dhe qellime kerkimore.
• Peptidi C reflekton prodhimin endogjen te insulines; preparati
eshte insuline aktive dhe nuk permban peptid C.
• Dozimi i peptidit C ka vlere te madhe per te percaktuar
kapacitetin residual sekretor te qelizave beta tek pacientet
me terapi te ndryshme perfshi dhe insulinen.
Prof. Asc. Etleva Refatllari 38
Prodhimi i insulines me teknologjine
rekombinante te ADN
39
Prof. Asc. Etleva Refatllari
Glukozuria
• Glukoza shfaqet ne urine kur glicemia kalon 180mg/dL ne
gjak (kalon pragun renal). Testi me i zakonshem, eshte ai
gjysme sasior (testi rutine i analizes se urines). Tek nje
diabetik, zakonisht gjejme glukozuri 0.5 – 2 g/dL
• Ka dhe nje seri shkaqesh jodiabetike qe mund te shoqerohen
me glukozuri
• Nuk rekomandohet si rutine monitorimi
Prof. Asc. Etleva Refatllari
40
Glukozuri pa hiperglicemi Glukozuri me hiperglicemi
• Shtatzania
• Sindromi Fanconi
• Glukozuria renale
• Sindromi nefrotik
• Tirotoksikoze
• Sindrom Kushing
• Demtimi i SNQ
• Infeksioni
• Anestezia
• Eksitimi dhe stresi
Hemoglobina e glukozuar; HbA1c
• Hemoglobina A ne qarkullim ( gjysme jeta e RBC eshte 120
dite); glikozilohet permes nje reaksioni joenzimatik te
pakthyeshem.
• Shkalla e glikozilimit eshte proporcionale me perqendrimin e
glukozes ne gjak.
• Perqendrimi i HbA1c ne RBC reflekton glikozilimin e Hb gjate
120 diteve dhe rrjedhimisht perqendrimin e glukozes ne gjak
gjate kesaj periudhe.
• Dozimi i hemoglobines se glukozuar eshte nje test
retrospektiv me vlere te pazevendesueshme ne
monitorimin e terapise ne diabet per 6-8 javet e fundit.
• Vlerat referente te HbA1c : 3,8 – 6,3 %
• Kujdes! Vlerat 5,7 – 6,4% konsiderohen “prediabet”
• Pacientet me hemolize kane vlere me te ulur te HbA1c per
shkak te gjysme jetes me te shkurter te eritrociteve.
• Dozimi i HbA1c te pakten 2 here ne vit eshte i detyruar
per te gjithe pacientet diabetike per vleresimin e
kontrollit te glicemise
Prof. Asc. Etleva Refatllari
41
Markuesit gjenetike
•Matja ne rutine e markuesve gjenetike nuk ka
vlere per diagnozen ose menazhimin e diabetit
tip1.
•Per disa sindroma diabetike si diabeti neonatal
mund te kete vlere informacioni i fituar nga
percaktimi i mutacioneve
•Testet gjenetike nuk kane vlere per diagnozen e
diabetit tip2.
Prof. Asc. Etleva Refatllari
42
Markuesit autoimune
• Antikorpet (Ac) ndaj ishujve te pankreasit
rekomandohen ne skrinimin e familjareve
jodiabetike qe duan te dhurojne pjese te
pankreasit te tyre per transplant.
•Nuk rekomandohen per diagnozen rutine te
diabetit por mund te perdoren per klasifikimin e
diabetit ne te rriturit dhe ne studimet prospektive
te femijeve me risk gjenetik per diabet tip1 pas
tipizimit te HLA.
•Depistimi i diabetikeve tip2 per Ac ndaj ishujve te
pankreasit nuk eshte i rekomanduar.
Prof. Asc. Etleva Refatllari
43
Testet laboratorike per te parandaluar
shfaqjen e komplikacioneve te diabetit
• Shkaku me i shpeshte i vdekjeve ne pacientet diabetike
jane komplikacionet makrovaskulare e vecanerisht
semundjet kardiovaskulare
• Semubdshmeria kardiovaskulare influencohet nga
faktoret e njohur te riskut per CAD dhe kontrolli i
glicemise
• Lipidograma esell rekomandohet cdo tre muaj deri ne
stabilizim dhe me pas cdo 6 - 12 muaj
• Menazhimi eshte individual
• Testet monitoruese:
• Kolesterol total
• Triglicerid
• HDL dhe LDL kolesterol
• HbA1c
Prof. Asc. Etleva Refatllari 44
Albuminuria - mikroalbuminuri
• Mikroalbuminuria ne pacientet diabetike eshte e
lidhur me riskun e larte per semundje
kardiovaskulare; Makroalbuminuria (>200mg/dite)
shoqerohet me semundje renale qe mund te
progresoje ne insuficience renale terminale.
• Testimi vjetor i pacienteve pa proteinuri klinike duhet
te filloje ne periudhen pubertale ose postpubertale 5
vjet pas diagnozes se diabetit tip1 dhe ne kohen e
diagnozes per diabet tip2.
• Perqendrimi i albumines ne urine ≥ 30mg/g kreatinine
konsiderohet risk per semundje kardiovaskulare.
• Perqendrimi i ulet i albumines ne urine nuk
shoqerohet me risk kardiovaskular nese eGFR eshte
>60ml/min dhe ne paciente normotensive; ne
pacientet me hipertension, eGFR<60 dhe albuminuri
< 30mg/g Cre ne nje kampion urine – rekomandohet
perseritja e testit brenda vitit.
Prof. Asc. Etleva Refatllari
45
Albuminuria - mikroalbuminuri
Raporti Albumin:Creatinine (ACR)
• ACR vlereson ekskretimin ditor urinar te albumines
• ACR matet zakonisht ne urinen e pare te mengjesit
• Rezultati jonormal duhet te konfirmohet ne dy perseritje
Mikroalbuminuria
• nuk mund te detektohet me stripet e zakonshme te
urines
• eshte ekskretimi urinar i albumines ndermjet 20 dhe
200 mg/dite mbi
• 300mg/dite kemi proteinuria
Prof. Asc. Etleva Refatllari 46
Semundja diabetike renale
Rruga me e mire per te testuar komplikacionet renale ne nje
diabetik eshte testimi i raportit te ekskretimit
albumine/kreatinine(ACR), kreatinines plazmatike dhe GFR.
Keto teste behen ne cdo pacient te diagnostikuar me diabet
dhe perseriten te pakten cdo vit; me shpesh ne paciente me
proteinuri, mikroalbuminuri apo GFR te reduktuar
Prof. Asc. Etleva Refatllari 47
Stadi Pershkrimi GFR
(ml/min/1.73m2
)
1 Demtim renal me GFR N ose ↑ ≥ 90
2 Demtim renal me GFR pak te ulur 60 – 89
3 Ulje e moderuar e GFR 30 – 59
4 Ulje e rende e GFR 15 – 29
5 Insuficience renale < 15 ose dialize
Konkluzione
•Dozimi i glukozes esell ne gjak eshte testi me i mire
fillestar per diagnozen e diabetit
• Testi i tolerances se glukozes perdoret vetem ne
subjekte qe kane vlera ekuivoke te glicemise esell
• Pacientet e diagnostikuar me tolerance te thyer te
glukozes perfitojne nga nderhyrja ne stiline jetes dhe
kontrolli vjetor i glicemise
•HbA1C eshte testi me i mire per kontrollin dhe
monitorimin e nje pacienti diabetik
• Pacientet diabetike perfitojne nga monitorimi agresiv
dhe menazhimi i faktoreve te rriskut kardiovaskular
Prof. Asc. Etleva Refatllari 48

diagnoses and monitoring of mellitus diabetes; details to know for biochemistry exam; listed and
detailed and classified answer

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Certainly! Here are the details you should know about the diagnosis and monitoring of diabetes
mellitus for your biochemistry exam. The information is listed, detailed, and classified for better
understanding:
Diagnosis of Diabetes Mellitus:
Fasting Plasma Glucose (FPG) Test: Measures blood glucose levels after an overnight fast. A value
equal to or greater than 126 mg/dL (7.0 mmol/L) on two separate occasions indicates diabetes.
Oral Glucose Tolerance Test (OGTT): Involves measuring blood glucose levels before and 2 hours
after consuming a glucose-rich beverage. A 2-hour glucose level equal to or greater than 200 mg/dL
(11.1 mmol/L) indicates diabetes.
Hemoglobin A1c (HbA1c) Test: Reflects average blood glucose levels over the past 2-3 months. A
value equal to or greater than 6.5% is indicative of diabetes.
Classification of Diabetes Mellitus:
Type 1 Diabetes: Results from autoimmune destruction of pancreatic beta cells, leading to insulin
deficiency. It typically presents in childhood or adolescence.
Type 2 Diabetes: Characterized by insulin resistance and relative insulin deficiency. It is often
associated with obesity and lifestyle factors and is more common in adults.
Gestational Diabetes Mellitus (GDM): Occurs during pregnancy and is diagnosed using similar criteria
to those for non-pregnant individuals. It increases the risk of developing type 2 diabetes later in life.
Monitoring of Diabetes Mellitus:
Self-Monitoring of Blood Glucose (SMBG): Involves regular measurement of blood glucose levels
using a glucometer. It helps individuals make informed decisions about diet, exercise, and
medication.
Hemoglobin A1c (HbA1c) Testing: Measures the percentage of glycated hemoglobin in the blood,
providing an average of blood glucose control over the past 2-3 months.
Continuous Glucose Monitoring (CGM): Utilizes a small sensor placed under the skin to measure
glucose levels continuously. It provides real-time data and can help identify patterns and trends in
glucose control.
Long-Term Monitoring and Complications:
Lipid Profile: Evaluates cholesterol and triglyceride levels, as individuals with diabetes are at higher
risk of cardiovascular disease.
Kidney Function Tests: Measures serum creatinine, blood urea nitrogen (BUN), and urine albumin to
assess renal function.
Eye Examinations: Regular eye exams, including dilated fundus examination, to detect diabetic
retinopathy.
Neuropathy Screening: Assessing for peripheral neuropathy through physical examination and
specialized tests.
It's important to note that the diagnosis and monitoring of diabetes mellitus should be performed by
qualified healthcare professionals. The criteria and recommended tests may vary depending on the
specific guidelines in your region. Refer to your course materials and consult additional resources for
a more comprehensive understanding of diabetes mellitus and its diagnosis and monitoring.
User
glucose in urine; details to know for biochemistry exam; listed and detailed and classified answer

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Certainly! Here are the details you should know about glucose in urine for your biochemistry exam.
The information is listed, detailed, and classified for better understanding:

Glucose in Urine (Glucosuria):

Definition: Glucosuria refers to the presence of glucose in the urine. Under normal circumstances,
the kidneys reabsorb nearly all filtered glucose back into the bloodstream. Glucosuria occurs when
blood glucose levels exceed the renal threshold for glucose reabsorption.
Classification of Glucosuria:
Renal Glucosuria: In renal glucosuria, the renal tubules fail to reabsorb glucose efficiently despite
normal blood glucose levels. This condition is usually benign and does not indicate a problem with
glucose metabolism.
Non-Renal Glucosuria: Non-renal glucosuria occurs when there is an excess of glucose in the blood
that exceeds the renal threshold. This can be seen in conditions such as uncontrolled diabetes
mellitus or during periods of stress or illness.
Causes of Glucosuria:
Diabetes Mellitus: Glucosuria is commonly associated with uncontrolled diabetes mellitus, especially
in cases of elevated blood glucose levels.
Renal Tubular Disorders: Certain renal tubular disorders, such as Fanconi syndrome, can lead to
impaired glucose reabsorption and glucosuria.
Hormonal Imbalances: Conditions affecting hormones involved in glucose regulation, such as
Cushing's syndrome or hyperthyroidism, can result in glucosuria.
Medications: Some medications, like certain diuretics (e.g., SGLT2 inhibitors) or high-dose
corticosteroids, can cause glucosuria as a side effect.
Clinical Significance:
Diagnostic Indicator: Glucosuria can be an early indicator of diabetes mellitus or impaired glucose
tolerance. It is commonly assessed alongside blood glucose measurements for diabetes diagnosis
and monitoring.
Monitoring Treatment: The presence or absence of glucosuria can be used to evaluate the
effectiveness of antidiabetic therapy or lifestyle modifications in managing diabetes.
It's important to note that glucosuria should be evaluated in the context of a comprehensive clinical
assessment. Additional diagnostic tests and medical evaluation are necessary to determine the
underlying cause of glucosuria and guide appropriate management. Refer to your course materials
and consult additional resources for a more comprehensive understanding of glucosuria and its
clinical significance.

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ketones in urine details to know for biochemistry exam; listed and detailed and classified answer

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Certainly! Here are the details you should know about ketones in urine for your biochemistry exam.
The information is listed, detailed, and classified for better understanding:

Ketones in Urine (Ketonuria):

Definition: Ketonuria refers to the presence of ketone bodies in the urine. Ketone bodies are
produced as a result of fatty acid breakdown when there is insufficient glucose available for energy
production.
Classification of Ketonuria:
Physiological Ketonuria: This occurs during fasting or prolonged periods of intense exercise when the
body relies on fat metabolism for energy. It is a normal response and not usually associated with any
pathology.
Pathological Ketonuria: Pathological ketonuria is often seen in conditions such as uncontrolled
diabetes mellitus, starvation or malnutrition, alcoholism, or certain metabolic disorders.
Causes of Ketonuria:
Diabetic Ketoacidosis (DKA): DKA is a life-threatening complication of uncontrolled diabetes mellitus,
characterized by high blood glucose levels, ketosis, and metabolic acidosis.
Starvation or Severe Caloric Restriction: In situations where carbohydrate intake is severely limited,
such as prolonged fasting or very low-carbohydrate diets, the body turns to fat metabolism for
energy, resulting in ketonuria.
Alcoholism: Chronic alcohol consumption can impair liver function and disrupt glucose metabolism,
leading to increased ketone production.
Certain Metabolic Disorders: Inherited metabolic disorders such as defects in fatty acid oxidation or
ketogenic enzymes can result in the accumulation of ketone bodies and ketonuria.
Clinical Significance:
Diabetic Monitoring: Ketonuria is an important indicator of inadequate insulin control in individuals
with diabetes mellitus. It can signify poor glycemic control or the development of diabetic
ketoacidosis.
Metabolic Stress: Ketonuria can be observed in situations of metabolic stress, such as severe illness,
trauma, or surgery, where there is increased energy demand and decreased carbohydrate intake.
Nutritional Assessment: Ketonuria may be used as a marker to evaluate the effectiveness of low-
carbohydrate diets or fasting regimens.
It's important to note that ketonuria should be interpreted in the context of a comprehensive clinical
evaluation, including blood glucose levels and other relevant tests. Additionally, the underlying cause
of ketonuria should be identified and treated accordingly. Refer to your course materials and consult
additional resources for a more comprehensive understanding of ketonuria and its clinical
significance.

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blood glucose details to know for biochemistry exam; listed and detailed and classified answer

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Certainly! Here are the details you should know about blood glucose for your biochemistry exam.
The information is listed, detailed, and classified for better understanding:

Blood Glucose:
Definition: Blood glucose, also known as blood sugar, refers to the concentration of glucose (a type
of sugar) in the bloodstream. Glucose is the primary source of energy for the body's cells and is
tightly regulated to maintain stable levels.
Classification of Blood Glucose Levels:
Normal Blood Glucose: Fasting blood glucose levels between 70-99 mg/dL (3.9-5.5 mmol/L) are
considered normal in healthy individuals.
Hyperglycemia: Hyperglycemia refers to elevated blood glucose levels. Fasting blood glucose levels
above 126 mg/dL (7.0 mmol/L) on two separate occasions are diagnostic criteria for diabetes
mellitus.
Hypoglycemia: Hypoglycemia indicates low blood glucose levels. It is defined as a blood glucose
concentration below 70 mg/dL (3.9 mmol/L) and can be associated with symptoms of low blood
sugar.
Regulation of Blood Glucose:
Insulin: Insulin, produced by the pancreas, promotes the uptake of glucose from the blood into cells,
lowering blood glucose levels.
Glucagon: Glucagon, also produced by the pancreas, stimulates the release of stored glucose from
the liver, raising blood glucose levels.
Other Hormones: Hormones such as cortisol, growth hormone, and epinephrine also influence blood
glucose regulation.
Clinical Significance:
Diabetes Mellitus: Diabetes mellitus is a metabolic disorder characterized by persistent
hyperglycemia due to insulin deficiency (Type 1 diabetes) or insulin resistance (Type 2 diabetes).
Glycemic Control: Monitoring blood glucose levels is crucial for managing diabetes and assessing
glycemic control. Regular monitoring helps guide treatment decisions, such as adjusting medication
doses or lifestyle modifications.
Hypoglycemia: Hypoglycemia can occur in individuals with diabetes who use insulin or certain
medications. It requires immediate attention to prevent complications.
Diagnostic Tests:
Fasting Blood Glucose Test: This measures blood glucose levels after an overnight fast and is used for
diagnosing diabetes.
Oral Glucose Tolerance Test (OGTT): This test involves measuring blood glucose levels before and
after consuming a glucose drink and is used to diagnose gestational diabetes and assess impaired
glucose tolerance.
Hemoglobin A1c (HbA1c) Test: HbA1c reflects average blood glucose levels over the past 2-3 months
and is used to assess long-term glycemic control in diabetes.
Understanding blood glucose levels and their regulation is crucial for the diagnosis, management,
and monitoring of diabetes and other metabolic disorders. Consult your course materials and
additional resources for a more comprehensive understanding of blood glucose and its clinical
significance.

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random blood glucose details to know for biochemistry exam; listed and detailed and classified
answer

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Certainly! Here are the details you should know about random blood glucose for your biochemistry
exam. The information is listed, detailed, and classified for better understanding:

Random Blood Glucose:

Definition: Random blood glucose refers to the measurement of blood glucose levels at any time of
the day, without regard to the timing of meals or fasting status. It provides a snapshot of the current
blood glucose level.
Classification and Interpretation of Random Blood Glucose Levels:
Normal Range: In healthy individuals, random blood glucose levels are typically below 140 mg/dL
(7.8 mmol/L).
Hyperglycemia: Random blood glucose levels above 200 mg/dL (11.1 mmol/L) may indicate
hyperglycemia, which can be associated with conditions such as uncontrolled diabetes, stress, or
illness.
Hypoglycemia: Random blood glucose levels below 70 mg/dL (3.9 mmol/L) suggest hypoglycemia,
which can occur in individuals with diabetes who use insulin or certain medications.
Clinical Significance:
Diabetes Diagnosis: Random blood glucose levels above 200 mg/dL (11.1 mmol/L), accompanied by
symptoms of hyperglycemia, can be suggestive of diabetes mellitus. However, a confirmatory
diagnosis is typically made using fasting blood glucose or oral glucose tolerance tests.
Monitoring Glycemic Control: Random blood glucose testing can be used to monitor glycemic control
in individuals with known diabetes. It provides insight into glucose levels at various times throughout
the day.
Assessment of Acute Hyperglycemia or Hypoglycemia: Random blood glucose testing is useful in
emergency situations or when immediate assessment of blood glucose levels is necessary, such as
suspected diabetic ketoacidosis or severe hypoglycemia.
Factors Affecting Random Blood Glucose Levels:
Recent Food Intake: Random blood glucose levels can be influenced by recent meals or snacks.
Therefore, it may not reflect fasting or postprandial glucose levels accurately.
Stress and Illness: Physical or emotional stress, as well as certain illnesses, can cause transient
elevations in random blood glucose levels.
Additional Testing:
Fasting Blood Glucose Test: If a random blood glucose test indicates hyperglycemia, a fasting blood
glucose test is typically performed to confirm the diagnosis of diabetes.
Oral Glucose Tolerance Test (OGTT): An OGTT may be ordered if diabetes is suspected, but the
random blood glucose results are inconclusive or borderline.
Understanding random blood glucose levels and their interpretation is important for diagnosing and
monitoring diabetes. It also aids in the assessment of acute hyperglycemic or hypoglycemic episodes.
Consult your course materials and additional resources for a more comprehensive understanding of
random blood glucose and its clinical significance.

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fasting blood glucose details to know for biochemistry exam; listed and detailed and classified
answer

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Certainly! Here are the details you should know about fasting blood glucose for your biochemistry
exam. The information is listed, detailed, and classified for better understanding:
Fasting Blood Glucose:
Definition: Fasting blood glucose refers to the measurement of blood glucose levels after an
overnight fast, typically for at least 8 hours. It is commonly used to assess glucose metabolism and
diagnose diabetes mellitus.
Classification and Interpretation of Fasting Blood Glucose Levels:
Normal Range: In healthy individuals, fasting blood glucose levels are typically between 70-99 mg/dL
(3.9-5.5 mmol/L).
Impaired Fasting Glucose (IFG): Fasting blood glucose levels between 100-125 mg/dL (5.6-6.9
mmol/L) are indicative of impaired fasting glucose, which is a prediabetic state.
Diabetes Diagnosis: Fasting blood glucose levels equal to or above 126 mg/dL (7.0 mmol/L) on two
separate occasions are diagnostic for diabetes mellitus.
Clinical Significance:
Diabetes Diagnosis: Fasting blood glucose is one of the primary criteria used to diagnose diabetes. It
provides an indication of the individual's ability to regulate blood glucose levels during periods of
fasting.
Monitoring Glycemic Control: Fasting blood glucose levels are routinely monitored in individuals with
diabetes to assess their overall glycemic control. Target levels may vary depending on the
individual's specific treatment plan.
Screening for Diabetes Risk: Fasting blood glucose tests may be used as a screening tool to identify
individuals at risk of developing diabetes, such as those with a family history of the disease or those
who are overweight or obese.
Factors Affecting Fasting Blood Glucose Levels:
Fasting Period: Accurate fasting blood glucose measurement requires an overnight fast of at least 8
hours. Failure to fast for the appropriate duration can lead to inaccurate results.
Medications: Certain medications, such as corticosteroids or diuretics, can affect fasting blood
glucose levels. It is important to consider medication use when interpreting results.
Stress and Illness: Physical or emotional stress and certain illnesses can influence fasting blood
glucose levels. In these situations, additional diagnostic tests may be needed to confirm the
diagnosis.
Additional Testing:
Oral Glucose Tolerance Test (OGTT): An OGTT may be performed if fasting blood glucose levels are
inconclusive or borderline. It involves measuring blood glucose levels at baseline and then at specific
intervals following the ingestion of a glucose solution.
Understanding fasting blood glucose levels and their interpretation is crucial for diagnosing and
monitoring diabetes. It helps assess an individual's ability to regulate blood glucose levels during
periods of fasting. Familiarize yourself with the reference ranges and diagnostic criteria specific to
your course or institution for a comprehensive understanding of fasting blood glucose testing.
User
oral glucose tolerance test details to know for biochemistry exam; listed and detailed and classified
answer

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Certainly! Here are the details you should know about the oral glucose tolerance test (OGTT) for
your biochemistry exam. The information is listed, detailed, and classified for better understanding:

Oral Glucose Tolerance Test (OGTT):

Definition: The OGTT is a diagnostic test used to assess the body's ability to metabolize glucose and
diagnose various glucose metabolism disorders, including diabetes mellitus and impaired glucose
tolerance.
Procedure:
Fasting Period: The patient is required to fast for at least 8 hours before the test.
Baseline Blood Sample: A fasting blood sample is taken to measure the initial fasting blood glucose
level.
Glucose Solution: The patient is then given a standard glucose solution to drink, typically containing
75 grams of glucose dissolved in water.
Blood Sampling: Blood samples are taken at specific time intervals after the glucose solution is
consumed, usually at 30 minutes, 1 hour, 2 hours, and sometimes 3 hours.
Measurement of Blood Glucose: The blood samples are analyzed to measure the glucose
concentration in each sample.
Interpretation of OGTT Results:
Normal Response: In individuals with normal glucose metabolism, blood glucose levels rise after the
glucose load but return to normal levels within 2-3 hours.
Impaired Glucose Tolerance (IGT): IGT is diagnosed when blood glucose levels are higher than
normal but do not meet the criteria for diabetes. Typically, the 2-hour blood glucose level is between
140-199 mg/dL (7.8-11.0 mmol/L).
Diabetes Diagnosis: Diabetes is diagnosed if the 2-hour blood glucose level is equal to or exceeds 200
mg/dL (11.1 mmol/L) on two separate occasions during the OGTT.
Clinical Significance:
Diagnosis of Diabetes: The OGTT is a valuable tool for diagnosing diabetes, especially in cases where
fasting blood glucose levels may not provide a definitive diagnosis.
Assessing Insulin Sensitivity: The OGTT helps evaluate the body's ability to respond to a glucose load
and assess insulin sensitivity.
Gestational Diabetes Screening: The OGTT is commonly used during pregnancy to screen for
gestational diabetes, a condition characterized by high blood glucose levels during pregnancy.
Factors Affecting OGTT Results:
Diet and Physical Activity: Prior dietary intake and physical activity levels can influence the results of
the OGTT. It is essential for patients to adhere to the recommended diet and activity guidelines
before the test.
Medications: Some medications, such as corticosteroids or beta-blockers, can affect glucose
metabolism and alter OGTT results. It is important to consider medication use when interpreting the
test results.
Interpretation: The interpretation of the OGTT results should consider the reference ranges and
diagnostic criteria specific to the laboratory or institution.
Understanding the oral glucose tolerance test is crucial for diagnosing and monitoring glucose
metabolism disorders. Familiarize yourself with the procedure, interpretation of results, and factors
that can affect the test outcome for a comprehensive understanding of the OGTT.

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indications of an OGTT details to know for biochemistry exam; listed and detailed and classified
answer

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Certainly! Here are the indications for performing an oral glucose tolerance test (OGTT) that you
should know for your biochemistry exam. The information is listed, detailed, and classified for better
understanding:

Diagnosis of Diabetes Mellitus:

Suspected Diabetes: OGTT is indicated when a patient presents with symptoms suggestive of
diabetes, such as increased thirst, frequent urination, unexplained weight loss, or fatigue.
Screening for High-Risk Individuals: OGTT may be recommended for individuals at high risk of
developing diabetes, such as those with a family history of diabetes, obesity, or a history of
gestational diabetes.
Confirming Diabetes Diagnosis: OGTT is sometimes used to confirm a diagnosis of diabetes when
fasting blood glucose levels are borderline or inconclusive.
Diagnosis of Impaired Glucose Tolerance (IGT) or Impaired Fasting Glucose (IFG):
Individuals at Risk: OGTT is indicated in individuals with risk factors for impaired glucose metabolism,
such as obesity, sedentary lifestyle, or a history of cardiovascular disease.
Screening for Pre-diabetes: OGTT is used to identify individuals with impaired glucose tolerance (IGT)
or impaired fasting glucose (IFG), which are intermediate stages between normal glucose
metabolism and diabetes.
Gestational Diabetes Screening:
All Pregnant Women: OGTT is routinely performed in pregnant women between 24-28 weeks of
gestation to screen for gestational diabetes.
High-Risk Pregnancies: OGTT may be indicated earlier in pregnancy for women with risk factors for
gestational diabetes, such as obesity, previous gestational diabetes, or a family history of diabetes.
Assessment of Insulin Resistance and Metabolic Syndrome:
Insulin Resistance: OGTT is used to evaluate insulin resistance, a condition commonly associated with
metabolic syndrome, polycystic ovary syndrome (PCOS), and other insulin-related disorders.
Metabolic Syndrome: OGTT is indicated in individuals with clinical features of metabolic syndrome,
including abdominal obesity, high blood pressure, dyslipidemia, and insulin resistance.
Research and Clinical Trials:
Investigating Glucose Metabolism: OGTT is often used in research studies and clinical trials to
investigate various aspects of glucose metabolism, such as the effects of medications, dietary
interventions, or lifestyle modifications.
Understanding the indications for performing an oral glucose tolerance test is crucial for identifying
individuals at risk of diabetes, evaluating glucose metabolism disorders, and guiding appropriate
treatment and management strategies. Familiarize yourself with the indications specific to various
clinical scenarios to ensure accurate and effective use of the OGTT.

hypoglycemia details to know for biochemistry exam; listed and detailed and classified answer
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Certainly! Here are the details about hypoglycemia that you should know for your biochemistry
exam. The information is listed, detailed, and classified for better understanding:
Definition and Classification of Hypoglycemia:
1. Definition: Hypoglycemia refers to abnormally low blood glucose levels, typically defined as a
blood glucose concentration below 70 mg/dL (3.9 mmol/L).
2. Classification: a. Spontaneous Hypoglycemia: Occurs in individuals without diabetes and is
often associated with underlying medical conditions, such as hormone deficiencies, liver
disease, or tumors. b. Insulin-Induced Hypoglycemia: Primarily seen in individuals with
diabetes who use insulin or certain diabetes medications. It occurs when the administered
insulin or medication leads to excessively low blood glucose levels. c. Reactive Hypoglycemia:
Also known as postprandial hypoglycemia, it occurs within a few hours after eating a meal,
particularly one rich in carbohydrates.
Causes of Hypoglycemia:
1. Insulin Overdose or Excess Medication: Administration of excessive insulin or diabetes
medications can lead to hypoglycemia in individuals with diabetes.
2. Delayed or Missed Meals: Prolonged fasting, skipping meals, or inadequate carbohydrate
intake can result in hypoglycemia.
3. Exercise: Intense or prolonged physical activity can deplete glycogen stores, leading to
 hypoglycemia.
4. Hormone Deficiencies: Deficiencies in hormones such as cortisol, growth hormone, or
glucagon can impair the body's ability to regulate blood glucose levels.
5. Liver Disease: Liver dysfunction or failure can impair glucose production and contribute to
hypoglycemia.
6. Alcohol Consumption: Excessive alcohol intake can disrupt liver function, affecting glucose
metabolism and leading to hypoglycemia.
7. Insulinoma: A tumor of the pancreas that produces excessive amounts of insulin, leading to
hypoglycemia.
8. Other Medical Conditions: Certain medical conditions, such as kidney failure, sepsis, or
certain metabolic disorders, can cause hypoglycemia.
Clinical Features of Hypoglycemia:
1. Autonomic Symptoms: Sweating, palpitations, tremors, anxiety, and hunger.
2. Neuroglycopenic Symptoms: Confusion, dizziness, headache, difficulty concentrating,
weakness, fatigue, and in severe cases, seizures or loss of consciousness.
Diagnosis of Hypoglycemia:
1. Blood Glucose Measurement: A blood sample is taken to measure the glucose level. A
reading below 70 mg/dL (3.9 mmol/L) confirms hypoglycemia.
2. Whipple's Triad: The diagnosis of hypoglycemia is supported by the presence of three
criteria: symptoms consistent with hypoglycemia, a low blood glucose level during
symptoms, and resolution of symptoms after raising the blood glucose level.
Treatment of Hypoglycemia:
1. Mild to Moderate Hypoglycemia: Oral consumption of fast-acting carbohydrates such as
glucose tablets, fruit juice, or regular soda to raise blood glucose levels.
2. Severe Hypoglycemia: Administration of intravenous glucose or glucagon injection if the
person is unconscious or unable to consume oral carbohydrates.
Understanding the causes, clinical features, and diagnostic approach to hypoglycemia is important
for identifying and managing this condition promptly. It is essential to differentiate hypoglycemia
from other metabolic disorders and provide appropriate treatment to prevent complications.

clinical effects of hypoglycemia details to know for biochemistry exam; listed and detailed and
classified answer
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Certainly! Here are the details about the clinical effects of hypoglycemia that you should know for
your biochemistry exam. The information is listed, detailed, and classified for better understanding:
Clinical Effects of Hypoglycemia:
1. Autonomic Symptoms:
 Sweating: Excessive sweating, often described as clamminess or perspiration.
 Palpitations: Increased heart rate, irregular heartbeat, or a sensation of fluttering in
 the chest.
 Tremors: Shaking or trembling of the hands, legs, or body.
 Anxiety: Feeling of unease, restlessness, or a sense of impending doom.
 Hunger: Intense or sudden hunger, often described as a gnawing or empty feeling in
the stomach.
2. Neuroglycopenic Symptoms:
 Confusion: Difficulty thinking clearly, poor concentration, or disorientation.
 Dizziness: Feeling lightheaded, dizzy, or faint.
 Headache: Aching or throbbing pain in the head.
 Difficulty Concentrating: Trouble focusing, impaired cognitive function, or memory
difficulties.
 Weakness: Generalized weakness, fatigue, or a sense of tiredness.
 Visual Disturbances: Blurred vision, double vision, or visual impairment.
 Behavioral Changes: Irritability, mood swings, agitation, or unusual behavior.
 Seizures: In severe cases of hypoglycemia, seizures may occur.
 Loss of Consciousness: If hypoglycemia is prolonged or severe, it can lead to loss of
consciousness or coma.
It's important to note that the severity and combination of symptoms can vary among individuals,
and some individuals may not experience specific symptoms. Prompt recognition and treatment of
hypoglycemia are crucial to prevent complications and ensure the restoration of normal blood
glucose levels.
It is also worth mentioning that frequent or recurrent episodes of hypoglycemia can lead to impaired
awareness of hypoglycemia (IAH), where individuals may not experience typical warning symptoms.
This condition requires careful monitoring and management to prevent severe hypoglycemia
episodes.
Understanding the clinical effects of hypoglycemia is essential for healthcare professionals to
recognize and treat this condition promptly. Proper management helps prevent potential
complications and ensures the well-being of individuals with hypoglycemia.

lab investigation of hypoglycemia details to know for biochemistry exam; listed and detailed and
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Certainly! Here are the details about the laboratory investigations for hypoglycemia that you should
know for your biochemistry exam. The information is listed, detailed, and classified for better
understanding:
Laboratory Investigations for Hypoglycemia:
1. Blood Glucose Levels:
 Fasting Blood Glucose (FBG): A measurement of blood glucose levels after an
overnight fast. A value below 70 mg/dL (3.9 mmol/L) is generally considered
 hypoglycemic.
 Random Blood Glucose: A measurement of blood glucose levels taken at any time
during the day. Values below 70 mg/dL (3.9 mmol/L) may indicate hypoglycemia.
 Oral Glucose Tolerance Test (OGTT): A test that involves measuring blood glucose
levels before and after consuming a standardized amount of glucose. Hypoglycemia
during the test indicates an abnormal response to glucose.
2. Insulin Levels:
 Fasting Insulin: Measurement of insulin levels in the fasting state. Elevated fasting
insulin levels in the presence of hypoglycemia may indicate insulinoma or exogenous
insulin administration.
 C-Peptide: Measurement of C-peptide, a byproduct of insulin production. Low C-
peptide levels in the presence of hypoglycemia suggest insulinoma or exogenous
insulin use.
3. Sulfonylurea and Insulin Antibodies:
 Sulfonylurea Screen: Detection of sulfonylurea drugs in the blood, which are
commonly used to treat diabetes. Presence of these drugs in a non-diabetic patient
may suggest surreptitious use.
 Insulin Antibodies: Detection of antibodies against exogenous insulin, which can
cause hypoglycemia in individuals receiving insulin therapy.
4. Fasting and Postprandial Hormones:
 Glucagon: Measurement of glucagon levels, a hormone that opposes the action of
insulin and helps raise blood glucose levels.
 Cortisol: Measurement of cortisol levels, which can affect glucose metabolism and
play a role in hypoglycemia.
 Growth Hormone: Measurement of growth hormone levels, as excess growth
hormone can lead to hypoglycemia.
5. Additional Tests:
 Liver Function Tests: Evaluation of liver enzymes, such as alanine aminotransferase
(ALT) and aspartate aminotransferase (AST), to assess liver function, which can affect
glucose metabolism.
 Renal Function Tests: Assessment of kidney function, as renal dysfunction can
contribute to hypoglycemia.
 Fasting Lipid Profile: Measurement of cholesterol and triglyceride levels, as
dyslipidemia can be associated with insulin resistance and hypoglycemia.
The laboratory investigations for hypoglycemia aim to identify the underlying cause and guide
appropriate management. It's important to correlate the laboratory findings with the clinical
presentation to arrive at an accurate diagnosis and develop an effective treatment plan.

treatment of hypoglycemia details to know for biochemistry exam; listed and detailed and classified
answer
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Certainly! Here are the details about the treatment of hypoglycemia that you should know for your
biochemistry exam. The information is listed, detailed, and classified for better understanding:
Treatment of Hypoglycemia:
1. Mild Hypoglycemia (Self-Treatment):
 Oral Carbohydrates: Consuming 15-20 grams of fast-acting carbohydrates, such as
glucose tablets, fruit juice, regular soda, or candy, to raise blood sugar levels.
 Recheck Blood Sugar: After 15 minutes, recheck blood sugar levels. If still below the
target range, additional carbohydrates may be needed.
2. Severe Hypoglycemia (Assistance Required):
 Glucagon Injection: If the individual is unable to consume oral carbohydrates, a
glucagon injection can be administered. Glucagon stimulates the liver to release
stored glucose into the bloodstream.
 Intravenous Glucose: In a healthcare setting, intravenous glucose can be
administered for rapid correction of severe hypoglycemia.
3. Preventive Measures:
 Balanced Meal Planning: Consuming regular, balanced meals and snacks that include
a combination of carbohydrates, proteins, and fats to maintain stable blood sugar
levels.
 Medication Adjustment: Adjusting the dosage or timing of diabetes medications,
such as insulin or oral hypoglycemic agents, in consultation with a healthcare
provider.
 Regular Blood Sugar Monitoring: Checking blood sugar levels regularly, especially
before and after meals, to identify any fluctuations and take appropriate action.
4. Education and Support:
 Diabetes Education: Providing education to individuals with diabetes and their
caregivers about the signs, symptoms, and management of hypoglycemia.
 Hypoglycemia Awareness: Encouraging individuals to recognize the early signs of
hypoglycemia, such as sweating, tremors, dizziness, and confusion, to take prompt
action.
 Medical Alert Identification: Wearing a medical identification bracelet or necklace
that alerts others about the individual's diabetes and the potential for hypoglycemia.
It is important to note that the treatment of hypoglycemia may vary depending on the individual's
specific condition, underlying cause, and healthcare provider's recommendations. Prompt
recognition and appropriate management of hypoglycemia are crucial to prevent complications and
ensure the individual's well-being.

specific causes of hypogycemia details to know for biochemistry exam; listed and detailed and
classified answer
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Certainly! Here are the specific causes of hypoglycemia that you should know for your biochemistry
exam. The information is listed, detailed, and classified for better understanding:
I. Exogenous Causes: A. Medications: 1. Insulin: Excessive insulin administration, either through
insulin injections or insulin pumps, can lead to hypoglycemia. 2. Oral Hypoglycemic Agents: Certain
medications used to treat type 2 diabetes, such as sulfonylureas or meglitinides, can cause
hypoglycemia if not taken in the appropriate dosage or timing. B. Alcohol: Excessive alcohol
consumption can interfere with the liver's ability to produce glucose, leading to hypoglycemia.
II. Endogenous Causes: A. Insulinoma: A tumor in the pancreas that produces excessive amounts of
insulin, leading to hypoglycemia. B. Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
(NIPHS): Rare disorders characterized by abnormal insulin secretion, such as nesidioblastosis or islet
hyperplasia. C. Hypoglycemia Associated with Critical Illness: In certain critical conditions, such as
sepsis, liver failure, or renal failure, the body's ability to regulate glucose levels is impaired, leading
to hypoglycemia. D. Hormonal Deficiencies: Deficiencies in hormones involved in glucose regulation,
such as cortisol (as seen in adrenal insufficiency) or growth hormone (as seen in growth hormone
deficiency), can contribute to hypoglycemia. E. Inborn Errors of Metabolism: Rare genetic disorders
that affect the metabolism of glucose or other substances, leading to hypoglycemia.
III. Reactive Hypoglycemia: A. Postprandial Hypoglycemia: A condition characterized by a rapid drop
in blood sugar levels after meals, often due to an exaggerated insulin response. B. Dumping
Syndrome: Following certain gastrointestinal surgeries, such as gastric bypass or gastric resection,
the rapid emptying of food into the small intestine can trigger hypoglycemia.
IV. Miscellaneous Causes: A. Fasting Hypoglycemia: Prolonged fasting or insufficient carbohydrate
intake can result in hypoglycemia. B. Severe Exercise: Intense or prolonged exercise without
adequate fueling can deplete glucose stores and lead to hypoglycemia. C. Insulin Autoimmune
Syndrome: A rare condition characterized by the production of insulin antibodies that can result in
hypoglycemia.
It is important to note that the diagnosis and management of hypoglycemia require a thorough
evaluation by a healthcare professional. Treatment approaches will depend on the underlying cause
and may involve adjustments in medications, dietary modifications, or addressing any other
contributing factors to maintain optimal blood sugar levels.

fasting hypoglycemia; insulinoma; cancer; hepatic disease; addison's disease; sepsis details to know
for biochemistry exam; listed and detailed and classified answer
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Certainly! Here are the details you should know about fasting hypoglycemia, insulinoma, cancer,
hepatic disease, Addison's disease, and sepsis for your biochemistry exam. The information is listed,
detailed, and classified for better understanding:
1. Fasting Hypoglycemia:
  Definition: Fasting hypoglycemia refers to low blood glucose levels that occur after
an extended period of fasting, typically defined as 8 hours or more.
 Causes:
 Prolonged fasting: Extended periods of fasting without adequate intake of
carbohydrates can deplete glucose stores, leading to hypoglycemia.
 Insufficient glycogen stores: Conditions such as glycogen storage diseases or
certain metabolic disorders can impair glycogen synthesis or breakdown,
resulting in hypoglycemia during fasting.
 Clinical features:
 Symptoms can include weakness, dizziness, confusion, sweating, and
hunger.
 In severe cases, neurologic symptoms such as seizures or loss of
consciousness may occur.
 Diagnosis:
 Fasting plasma glucose level below 55 mg/dL (3 mmol/L) in the absence of
exogenous insulin administration.
 Additional tests may be performed to identify the underlying cause.
2. Insulinoma:
 Definition: Insulinoma is a rare pancreatic neuroendocrine tumor that produces
excessive amounts of insulin, leading to hypoglycemia.
 Causes:
 Most cases are sporadic, but some may be associated with multiple
endocrine neoplasia type 1 (MEN1) syndrome.
 Clinical features:
 Symptoms are often related to hypoglycemia and include sweating, tremors,
palpitations, anxiety, confusion, and, in severe cases, seizures or loss of
consciousness.
 Diagnosis:
 Documentation of hypoglycemia with concomitant inappropriately elevated
insulin and C-peptide levels during fasting or after a prolonged fast.
 Imaging studies, such as CT scan or MRI, can help localize the insulinoma.
 Treatment:
 Surgical removal of the tumor is the treatment of choice.
 Medical management with diazoxide or somatostatin analogs may be used
in cases where surgery is not feasible.
3. Cancer:
 Some cancers, such as insulin-secreting pancreatic tumors (insulinomas), can
produce excessive amounts of insulin, leading to hypoglycemia.
 The tumor cells may also consume large amounts of glucose, leading to decreased
blood glucose levels.
  Other mechanisms may include impaired gluconeogenesis or increased insulin-like
growth factor production.
 Diagnosis and management depend on the specific type and location of the tumor.
4. Hepatic Disease:
 Liver diseases, such as cirrhosis or liver failure, can disrupt glucose homeostasis and
contribute to hypoglycemia.
 Impaired gluconeogenesis and glycogenolysis in the liver lead to decreased glucose
production.
 Additionally, liver dysfunction can affect insulin clearance, resulting in increased
circulating insulin levels.
 Treatment involves addressing the underlying liver disease and supporting liver
function.
5. Addison's Disease:
 Addison's disease, or adrenal insufficiency, is characterized by insufficient production
of adrenal hormones, including cortisol.
 Cortisol is important for maintaining glucose homeostasis by promoting
gluconeogenesis and glycogenolysis.
 In Addison's disease, cortisol deficiency can lead to decreased glucose production
and hypoglycemia.
 Other symptoms may include fatigue, weight loss, low blood pressure, and
hyperpigmentation.
 Treatment involves hormone replacement therapy with glucocorticoids and
mineralocorticoids.
6. Sepsis:

continue
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6. Sepsis:
 Sepsis is a severe systemic infection that can lead to dysregulation of glucose
metabolism and hypoglycemia.
 During sepsis, inflammatory mediators, such as cytokines and stress hormones, can
affect insulin secretion and action, leading to decreased glucose utilization and
increased hepatic glucose output.
 In severe cases, sepsis-induced adrenal insufficiency may occur, further contributing
to hypoglycemia.
 Clinical features of sepsis include fever, elevated heart rate, rapid breathing, and
altered mental status.
 Treatment involves addressing the underlying infection, providing supportive care,
and ensuring appropriate fluid and glucose management.
Remember, this information is intended to provide a general overview, and the specific details and
classifications may vary depending on your course material or curriculum. It is always important to
refer to reliable sources and consult with your instructor for the most accurate and up-to-date
information for your biochemistry exam.

reactive hypoglycemia; drugs; food; alcohol vdetails to know for biochemistry exam; listed and
detailed and classified answer
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Reactive Hypoglycemia: Reactive hypoglycemia is characterized by low blood sugar levels that occur
a few hours after a meal. It is often associated with an exaggerated insulin response. Here are the
details to know for your biochemistry exam:
1. Food-induced reactive hypoglycemia:
 Certain foods, especially those high in refined carbohydrates and sugars, can cause a
rapid increase in blood sugar levels, leading to an excessive release of insulin. This
can be followed by a rapid decrease in blood sugar, resulting in symptoms of
hypoglycemia.
 Common triggers include sugary drinks, candy, white bread, pasta, and other high-
glycemic index foods.
 Symptoms may include weakness, dizziness, sweating, shaking, and confusion.
2. Drug-induced reactive hypoglycemia:
 Certain medications can cause reactive hypoglycemia by either stimulating insulin
release or impairing glucose production.
 Examples include insulin and other diabetes medications, such as sulfonylureas,
which increase insulin secretion, and certain antibiotics, like quinolones, which can
interfere with glucose metabolism.
 Symptoms and treatment approach are similar to other forms of reactive
hypoglycemia.
3. Alcohol-induced reactive hypoglycemia:
 Consuming alcohol, especially on an empty stomach or in excessive amounts, can
lead to reactive hypoglycemia.
 Alcohol can inhibit glucose production in the liver, impair hormonal regulation, and
disrupt normal glucose metabolism.
 Symptoms may include weakness, confusion, sweating, and palpitations.
Classifications: Reactive hypoglycemia can be classified based on the underlying cause, such as food-
induced, drug-induced, or alcohol-induced. It is important to identify the specific trigger to
effectively manage and prevent episodes of hypoglycemia.
Diagnosis: Diagnosing reactive hypoglycemia can be challenging due to the dynamic nature of blood
sugar levels. It often requires a combination of clinical symptoms, glucose monitoring, and oral
glucose tolerance tests (OGTT). During an OGTT, blood glucose levels are measured before and after
consuming a glucose solution to evaluate the body's response.
Treatment: The primary goal of treating reactive hypoglycemia is to stabilize blood sugar levels and
prevent recurrent episodes. This involves dietary modifications, such as consuming a balanced diet
with complex carbohydrates, protein, and healthy fats, and avoiding high-glycemic index foods and
excessive alcohol consumption. Regular meals and snacks throughout the day can help maintain
stable blood sugar levels. In some cases, medication adjustments may be necessary if drug-induced
reactive hypoglycemia is suspected.
Remember to consult your course material and instructor for specific details and classifications
relevant to your biochemistry exam.

neonatal hypoglycemia; details to know for biochemistry exam; listed and detailed and classified
answer
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Neonatal Hypoglycemia: Neonatal hypoglycemia refers to low blood sugar levels in newborn babies.
It is an important condition to be aware of, as it can have significant consequences on the developing
infant. Here are the details to know for your biochemistry exam:
1. Classification:
 Transient Neonatal Hypoglycemia: This type of hypoglycemia occurs in the first few
hours to days after birth and is usually self-limiting. It is commonly seen in infants of
diabetic mothers, preterm infants, and those with intrauterine growth restriction.
 Persistent Neonatal Hypoglycemia: This type of hypoglycemia persists beyond the
first few days and may require ongoing management. It can be caused by various
underlying conditions, such as metabolic disorders, endocrine abnormalities, or
specific genetic mutations.
2. Causes:
 Maternal Diabetes: Infants born to diabetic mothers may experience neonatal
hypoglycemia due to excessive insulin production during gestation. After birth, the
baby's insulin production remains high, leading to low blood sugar levels.
 Prematurity: Preterm infants often have underdeveloped glycogen stores and
limited capacity for gluconeogenesis, making them more susceptible to
hypoglycemia.
 Inborn Errors of Metabolism: Certain genetic disorders, such as glycogen storage
diseases or disorders of fatty acid oxidation, can impair glucose metabolism and lead
to hypoglycemia.
 Endocrine Disorders: Conditions affecting the pituitary gland, adrenal glands, or
growth hormone production can disrupt glucose homeostasis and result in
hypoglycemia.
3. Clinical Features:
 Symptoms of neonatal hypoglycemia can vary and may include jitteriness, poor
 feeding, lethargy, irritability, seizures, and cyanosis.
 In severe cases, hypoglycemia can lead to neurological damage or even death if left
untreated.
4. Diagnosis:
 Diagnosis of neonatal hypoglycemia involves measuring blood glucose levels using a
glucometer or laboratory analysis.
 The American Academy of Pediatrics recommends screening infants at risk for
hypoglycemia, including those born to diabetic mothers, preterm infants, and infants
with signs and symptoms suggestive of low blood sugar.
5. Treatment:
 The primary goal of treatment is to restore and maintain normal blood glucose
levels.
 Mild hypoglycemia can often be managed by providing frequent feedings or
intravenous glucose infusion.
 In severe cases, where blood glucose levels are critically low or the infant is
symptomatic, immediate intravenous glucose administration is necessary.
Remember, the specific details and classifications may vary based on your course material and
curriculum. It is essential to consult your instructor or recommended resources for the most
accurate and up-to-date information for your biochemistry exam.

functions of the kidney; details to know for biochemistry exam; listed and detailed and classified
answer
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Functions of the Kidney: The kidneys are vital organs responsible for several important functions in
the body. Understanding these functions is crucial for a biochemistry exam. Here are the details you
need to know, classified into different categories:
1. Filtration Function:
 Filtration: The kidneys filter waste products, toxins, and excess substances from the
bloodstream, such as urea, creatinine, uric acid, and electrolytes.
 Glomerular Filtration Rate (GFR): GFR is a measure of the kidney's filtration function
and indicates the volume of fluid filtered by the glomeruli per unit of time.
 Renal Blood Flow: The kidneys receive a high blood flow to ensure effective filtration
and excretion of waste products.
2. Reabsorption Function:
 Tubular Reabsorption: After filtration, essential substances, such as glucose, amino
acids, and electrolytes, are reabsorbed from the tubules back into the bloodstream
to maintain proper balance and prevent their loss in urine.
 Selective Reabsorption: The kidney reabsorbs substances based on the body's needs.
For example, water reabsorption is regulated by antidiuretic hormone (ADH) and
allows for the concentration or dilution of urine.
 3. Secretion Function:
 Tubular Secretion: The kidneys selectively secrete certain substances, such as
hydrogen ions, potassium ions, and drugs, from the bloodstream into the tubules for
excretion in urine. This process helps maintain acid-base balance and eliminate
harmful substances.
4. Regulation of Fluid and Electrolyte Balance:
 Osmolality Regulation: The kidneys regulate the concentration of solutes in the body
by adjusting water reabsorption and excretion. This helps maintain proper fluid
balance and prevents dehydration or overhydration.
 Electrolyte Balance: The kidneys regulate the levels of electrolytes, including sodium,
potassium, calcium, and phosphate, to ensure optimal cellular function.
 Acid-Base Balance: The kidneys help maintain the pH balance of the body by
reabsorbing bicarbonate ions and excreting hydrogen ions as needed to regulate
acid-base homeostasis.
5. Hormone Production and Metabolism:
 Renin-Angiotensin-Aldosterone System (RAAS): The kidneys produce renin, an
enzyme involved in the regulation of blood pressure. Renin acts on angiotensinogen
to produce angiotensin II, which stimulates the release of aldosterone and
vasoconstriction.
 Erythropoiesis Regulation: The kidneys produce erythropoietin, a hormone that
stimulates the production of red blood cells in the bone marrow.
 Vitamin D Activation: The kidneys play a role in converting inactive vitamin D
(calcidiol) into its active form (calcitriol), which is important for calcium and
phosphate metabolism.
Remember to consult your course material and resources for the specific details and classifications
relevant to your biochemistry exam.

proteinuria; details to know for biochemistry exam; listed and detailed and classified answer
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Proteinuria, the presence of excess protein in the urine, is an important parameter that can provide
insights into kidney function and various underlying conditions. Here are the details you need to
know about proteinuria, classified into different categories:
1. Definition and Classification:
 Proteinuria: It refers to the presence of an abnormal amount of protein in the urine.
Normal urine contains a small amount of protein, but proteinuria occurs when the
protein levels exceed the normal range.
 Categories of Proteinuria:
 Microalbuminuria: Mild elevation of albumin in the urine, usually in the
range of 30-300 mg/day. It is an early sign of kidney damage and is
 commonly seen in conditions like diabetes and hypertension.
 Macroalbuminuria: Significant elevation of albumin in the urine, usually
exceeding 300 mg/day. It is often associated with more severe kidney
disease.
 Overflow proteinuria: Excretion of excessive amounts of low-molecular-
weight proteins, such as light chains in multiple myeloma or Bence Jones
proteinuria.
 Glomerular proteinuria: Leakage of proteins across the damaged glomerular
filtration barrier, resulting in the loss of albumin and other larger proteins.
 Tubular proteinuria: Impaired reabsorption of proteins by the renal tubules,
leading to the loss of low-molecular-weight proteins.
2. Causes and Mechanisms:
 Glomerular Causes: Glomerular diseases, such as glomerulonephritis, diabetic
nephropathy, and lupus nephritis, can damage the glomerular filtration barrier and
result in proteinuria.
 Tubular Causes: Tubular disorders, including tubulointerstitial nephritis and Fanconi
syndrome, can impair protein reabsorption in the renal tubules.
 Systemic Causes: Systemic conditions like diabetes, hypertension, and autoimmune
diseases can contribute to the development of proteinuria.
 Inflammatory Causes: Inflammatory conditions affecting the urinary tract or kidneys,
such as urinary tract infections or pyelonephritis, can cause proteinuria.
 Other Causes: Certain medications, toxins, kidney stones, and strenuous exercise
may also lead to transient proteinuria.
3. Clinical Significance:
 Diagnostic Marker: Proteinuria serves as an important diagnostic marker for various
kidney diseases and helps evaluate the severity and progression of renal disorders.
 Prognostic Indicator: The degree of proteinuria is often correlated with the prognosis
of kidney diseases and can guide treatment decisions.
 Renal Function Assessment: Persistent and significant proteinuria can indicate
impaired kidney function and the presence of underlying renal damage.
 Cardiovascular Risk: Proteinuria is associated with an increased risk of cardiovascular
disease and mortality, independent of kidney function.
4. Diagnostic Evaluation:
 Urine Dipstick: Proteinuria is often detected using a urine dipstick test, which
provides a semi-quantitative measurement of protein levels.
 Urine Protein-to-Creatinine Ratio (PCR): PCR is a more accurate method to quantify
proteinuria and correct for variations in urine concentration.
 24-Hour Urine Collection: In some cases, a 24-hour urine collection is performed to
measure the total amount of protein excreted over a day.
Remember to refer to your course material and resources for specific details and classifications
relevant to proteinuria for your biochemistry exam.

urine collection; details to know for biochemistry exam; listed and detailed and classified answer
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Urine collection is an essential procedure in clinical practice for evaluating various aspects of kidney
function and diagnosing urinary tract disorders. Here are the details you need to know about urine
collection, classified into different categories:
1. Types of Urine Collection:
 Random Urine Sample: A random urine sample is collected at any time of the day
without any specific instructions. It is commonly used for routine urinalysis and
screening tests.
 First Morning Void (FMV) Sample: This is the first urine sample collected in the
morning after overnight fasting. It is preferred for measuring substances that exhibit
diurnal variation, such as hormones and certain analytes.
 Timed Urine Collection: In this method, urine is collected over a specific period,
usually 2, 4, or 24 hours. It allows for the accurate measurement of analyte excretion
rates and clearance calculations.
 Clean-Catch Midstream Urine: This technique involves collecting urine midstream
after cleaning the external genitalia to minimize contamination from the urethra and
surrounding areas. It is used for culture and sensitivity testing to diagnose urinary
tract infections.
 Catheterized Urine Collection: This method involves inserting a catheter into the
bladder to collect urine directly. It is utilized in patients who cannot provide a clean-
catch sample or when sterile urine is required for diagnostic purposes.
2. Collection Instructions and Precautions:
 Adequate Fluid Intake: Patients should be instructed to drink enough fluids to ensure
a sufficient urine volume for analysis.
 Proper Hygiene: Patients should be advised to clean the genital area thoroughly
before urine collection to avoid contamination.
 Collection Containers: Urine samples should be collected in sterile containers
provided by the laboratory, ensuring proper labeling with patient information and
collection time.
 Special Considerations: Depending on the specific tests required, additional
instructions may be given, such as avoiding certain foods, medications, or
supplements that can interfere with the results.
3. Sample Handling and Preservation:
 Refrigeration: Urine samples should be refrigerated if not analyzed immediately to
prevent bacterial growth and degradation of certain analytes.
 Proper Sealing: Urine containers should be tightly sealed to prevent leakage and
 evaporation of volatile components.
 Transport: If the sample needs to be transported to a different laboratory, it should
be appropriately packaged and labeled, following the specific transport guidelines
provided.
4. Analysis and Testing:
 Routine Urinalysis: A variety of tests can be performed on urine, including visual
examination, pH measurement, specific gravity determination, protein, glucose,
ketones, and microscopic analysis of sediment.
 Specialized Tests: Depending on the clinical indication, additional tests may be
ordered, such as urine culture, urine electrolyte measurements, drug screening, or
specific analyte measurements.
Remember to refer to your course material and resources for specific details and instructions
relevant to urine collection for your bio

renal tubular function details to know for biochemistry exam; listed and detailed and classified
answer
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Renal tubular function refers to the ability of the renal tubules to reabsorb and secrete various
substances to maintain the body's fluid and electrolyte balance. Here are the details you need to
know about renal tubular function, classified into different categories:
1. Reabsorption in Renal Tubules:
 Proximal Tubule: The proximal tubule reabsorbs the majority of filtered water,
electrolytes (sodium, potassium, calcium, magnesium), glucose, amino acids, and
bicarbonate. It also plays a crucial role in the reabsorption of filtered proteins and
the secretion of organic acids and bases.
 Loop of Henle: The descending limb of the loop of Henle is permeable to water,
allowing for passive reabsorption. The ascending limb actively reabsorbs sodium,
chloride, and potassium, contributing to the generation of a concentration gradient
in the medulla.
 Distal Tubule: The distal tubule is responsible for fine-tuning electrolyte balance. It
reabsorbs sodium and chloride and regulates the reabsorption and secretion of
potassium and hydrogen ions. It also plays a role in calcium and phosphate
reabsorption and acid-base balance.
 Collecting Duct: The collecting duct is involved in the final concentration and dilution
of urine under the influence of antidiuretic hormone (ADH). It reabsorbs water in the
presence of ADH and regulates the excretion of potassium and hydrogen ions.
2. Secretion in Renal Tubules:
 Proximal Tubule: The proximal tubule secretes organic anions, such as uric acid,
creatinine, and drugs, into the tubular lumen. It also participates in the secretion of
 hydrogen ions to regulate acid-base balance.
 Distal Tubule and Collecting Duct: The distal tubule and collecting duct secrete
potassium ions into the tubular lumen and reabsorb bicarbonate ions to regulate
acid-base balance.
3. Tubular Transport Disorders:
 Fanconi Syndrome: Fanconi syndrome is characterized by impaired reabsorption in
the proximal tubule, leading to excessive excretion of glucose, amino acids,
bicarbonate, and phosphate in the urine.
 Renal Tubular Acidosis (RTA): RTA refers to a group of disorders characterized by
impaired acid-base regulation in the renal tubules. It can result in metabolic acidosis
due to defective secretion or impaired reabsorption of hydrogen ions or
bicarbonate.
 Bartter Syndrome: Bartter syndrome is a rare genetic disorder characterized by
defects in sodium and chloride reabsorption in the loop of Henle, leading to
electrolyte imbalances and metabolic alkalosis.
4. Evaluation of Renal Tubular Function:
 Fractional Excretion: Fractional excretion of various substances, such as sodium,
potassium, and uric acid, can be calculated to assess tubular reabsorption or
secretion.
 Urine pH: Measurement of urine pH can provide insights into renal tubular
acidification.
 Urine Osmolality: Evaluation of urine osmolality helps assess the concentrating
ability of the renal tubules.
 Urine Electrolyte Levels: Measurement of urine electrolyte levels, such as sodium,
potassium, and chloride, can provide information about tubular reabsorption and
secretion.
Remember to refer to your course material and resources for specific details and instructions
relevant to renal tubular function for your biochemistry exam.

tubular dysfunction kidneyl details to know for biochemistry exam; listed and detailed and classified
answer
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Tubular dysfunction refers to impaired function of the renal tubules, which can lead to abnormal
reabsorption or secretion of substances. Here are the details you need to know about tubular
dysfunction in the kidneys, classified into different categories:
1. Proximal Tubular Dysfunction:
 Fanconi Syndrome: Fanconi syndrome is characterized by impaired reabsorption in
the proximal tubules, resulting in the excessive excretion of various substances in
the urine, including glucose, amino acids, bicarbonate, phosphate, and uric acid.
  Proximal Renal Tubular Acidosis (RTA): Proximal RTA is a disorder characterized by
impaired bicarbonate reabsorption in the proximal tubules, leading to metabolic
acidosis.
2. Distal Tubular Dysfunction:
 Distal Renal Tubular Acidosis (RTA): Distal RTA is a disorder characterized by
impaired acid secretion or reduced bicarbonate reabsorption in the distal tubules,
leading to metabolic acidosis. It can be inherited or acquired.
 Nephrogenic Diabetes Insipidus: Nephrogenic diabetes insipidus is a condition where
the kidneys are unable to respond to antidiuretic hormone (ADH), resulting in the
inability to concentrate urine. It can be inherited or acquired.
3. Collecting Duct Dysfunction:
 Nephrogenic Diabetes Insipidus: As mentioned above, nephrogenic diabetes
insipidus can result from dysfunction in the collecting ducts, leading to impaired
response to ADH.
4. Tubulointerstitial Diseases:
 Acute Tubular Necrosis (ATN): ATN is a common cause of acute kidney injury,
characterized by damage to the renal tubules due to ischemia or toxins, leading to
impaired tubular function.
 Chronic Tubulointerstitial Nephritis: Chronic tubulointerstitial nephritis is a
progressive inflammation and fibrosis of the tubules and interstitium, resulting in
tubular dysfunction.
5. Evaluation of Tubular Dysfunction:
 Urine Electrolyte Levels: Measurement of urine electrolyte levels, such as sodium,
potassium, and chloride, can provide information about tubular reabsorption and
secretion.
 Urine pH: Evaluation of urine pH helps assess tubular acidification and can provide
clues about acid-base balance.
 Fractional Excretion: Fractional excretion of various substances, such as sodium,
potassium, and uric acid, can be calculated to assess tubular function and
dysfunction.
It's important to consult your course material and resources for specific details and instructions
relevant to tubular dysfunction in the kidneys for your biochemistry exam.

investigation of tubular function details to know for biochemistry exam; listed and detailed and
classified answer
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Investigations of tubular function involve various tests and measurements to assess the functioning
of different segments of the renal tubules. Here are the details you need to know about the
investigation of tubular function, classified into different categories:
 1. Proximal Tubular Function:
 Urine Glucose: Measurement of glucose in urine can indicate proximal tubular
dysfunction, as the proximal tubules normally reabsorb all filtered glucose.
 Urine Amino Acids: Analysis of urine amino acids can help identify abnormalities in
amino acid reabsorption, as the proximal tubules are responsible for reabsorbing
most amino acids.
 Urine Phosphate: Measurement of urine phosphate levels can provide information
about proximal tubular phosphate reabsorption.
2. Distal Tubular Function:
 Urine pH: Evaluation of urine pH can help assess distal tubular acidification, as the
distal tubules play a role in acid-base regulation.
 Urine Potassium: Measurement of urine potassium levels can provide insights into
distal tubular potassium handling and secretion.
3. Water Handling and Concentration Ability:
 Urine Osmolality: Measurement of urine osmolality can assess the kidney's ability to
concentrate urine, reflecting the functioning of the collecting ducts.
 Water Deprivation Test: This test involves assessing the response to water
deprivation by monitoring urine volume, osmolality, and specific gravity. It helps
evaluate the ability of the kidneys to concentrate urine.
4. Tubular Transport Defects:
 Urine Electrolytes: Measurement of urine sodium, potassium, and chloride levels can
provide information about tubular reabsorption and secretion abnormalities.
 Fractional Excretion: Fractional excretion of various substances, such as sodium,
potassium, and uric acid, can be calculated to assess tubular function and identify
specific defects.
5. Imaging Studies:
 Renal Ultrasound: Ultrasound imaging of the kidneys can help identify structural
abnormalities that may be associated with tubular dysfunction.
 Renal Biopsy: In certain cases, a renal biopsy may be performed to examine the renal
tubules and assess for tubular pathology.
It's important to consult your course material and resources for specific details and instructions
relevant to the investigation of tubular function for your biochemistry exam.

osmolarity measurements in plasma and urine details to know for biochemistry exam; listed and
detailed and classified answer
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Osmolarity measurements in plasma and urine are important parameters used to assess the
concentration of solutes and the osmotic balance in the body. Here are the details you need to know
about osmolarity measurements, classified into plasma and urine:
 1. Plasma Osmolarity:
 Definition: Plasma osmolarity refers to the concentration of solutes in the blood
plasma.
 Measurement: Plasma osmolarity is typically measured using a laboratory method
called osmometry. This technique measures the freezing point depression or vapor
pressure of the plasma to determine osmolarity.
 Normal Range: The normal range of plasma osmolarity is approximately 275-295
mOsm/kg.
 Clinical Significance: Abnormal plasma osmolarity levels can indicate disorders such
as dehydration, overhydration, diabetes insipidus, syndrome of inappropriate
antidiuretic hormone (SIADH), and certain electrolyte imbalances.
2. Urine Osmolarity:
 Definition: Urine osmolarity refers to the concentration of solutes in the urine.
 Measurement: Urine osmolarity can be measured using the same osmometry
technique as for plasma osmolarity.
 Normal Range: The normal range of urine osmolarity varies depending on fluid
intake and other factors. Generally, it can range from 50-1,200 mOsm/kg.
 Clinical Significance: Urine osmolarity is used to assess the kidney's ability to
concentrate or dilute urine. Abnormal urine osmolarity levels can indicate conditions
such as diabetes insipidus, renal tubular defects, renal failure, and fluid and
electrolyte imbalances.
3. Osmolality vs. Osmolarity:
 Osmolality and osmolarity are related but slightly different concepts. Osmolality
refers to the concentration of solutes per kilogram of solvent (typically measured in
mOsm/kg), while osmolarity refers to the concentration of solutes per liter of
solution (typically measured in mOsm/L). In practical terms, the values obtained for
osmolality and osmolarity are very similar, and the terms are often used
interchangeably in clinical practice.
It's important to consult your course material and resources for specific details and instructions
relevant to osmolarity measurements in plasma and urine for your biochemistry exam.

the acid load test details to know for biochemistry exam; listed and detailed and classified answer
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The acid load test, also known as the acid loading test or acid clearance test, is a diagnostic test used
to assess the renal handling of acid and the overall acid-base balance in the body. Here are the
details you need to know about the acid load test, classified into procedure, indications,
interpretation, and limitations:
1. Procedure:
 Patient Preparation: The patient is typically asked to follow a specific diet for several
 days before the test to ensure consistent acid intake. This may involve avoiding
alkaline foods or taking specific acid supplements.
 Acid Administration: A known amount of acid is administered to the patient, either
orally or intravenously. Common acids used include ammonium chloride, ammonium
chloride/arginine, or NH4Cl/NaCl.
 Urine Collection: The patient's urine is collected over a specific time period (e.g., 6 or
24 hours) following acid administration.
 pH and Urine Volume Measurements: The collected urine samples are analyzed for
pH and volume.
 Calculation of Acid Excretion: The amount of acid excreted in the urine is calculated
by multiplying the urine volume by the urinary pH and converting it to
milliequivalents (mEq).
2. Indications:
 Evaluation of Renal Tubular Acidosis: The acid load test can help differentiate
between different types of renal tubular acidosis (RTA) and determine the specific
defect in renal acid handling.
 Assessment of Acid-Base Disorders: It can aid in diagnosing the underlying cause of
metabolic acidosis and provide insights into the renal contribution to acid-base
balance.
3. Interpretation:
 Normal Acid Excretion: In healthy individuals, the kidneys are capable of excreting an
appropriate amount of acid, leading to a decrease in urine pH following acid
administration.
 Abnormal Acid Excretion: Abnormal acid excretion patterns may indicate a
dysfunction in renal acid handling. Different patterns of acid excretion can be
observed in different types of RTA or other acid-base disorders.
4. Limitations:
 Variability: The acid load test results can vary based on individual factors such as
diet, hydration status, and underlying renal function.
 Interpretation Challenges: Interpreting the acid load test results requires
consideration of other clinical and laboratory parameters to establish a definitive
diagnosis.
It's important to consult your course material and resources for specific details and instructions
relevant to the acid load test for your biochemistry exam.

types of renal tubular acidosis details to know for biochemistry exam; listed and detailed and
classified answer
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There are three main types of renal tubular acidosis (RTA), each characterized by a specific defect in
renal acid handling. Here are the details you need to know about the types of RTA, classified based
on their underlying causes and biochemical features:
1. Type 1 Renal Tubular Acidosis (RTA 1 or Distal RTA):
 Underlying Cause: Defect in the distal tubular cells' ability to secrete hydrogen ions
(H+), resulting in impaired acid excretion.
 Biochemical Features:
 Hyperchloremic Metabolic Acidosis: Elevated blood chloride levels and
decreased blood bicarbonate levels due to impaired acid excretion.
 Inappropriately High Urine pH: The urine pH is usually greater than 5.5
despite the presence of metabolic acidosis.
 Hypokalemia: Low blood potassium levels due to increased potassium
excretion in the urine.
 Clinical Features: Symptoms may include weakness, fatigue, growth retardation (in
children), and kidney stone formation.
2. Type 2 Renal Tubular Acidosis (RTA 2 or Proximal RTA):
 Underlying Cause: Impaired reabsorption of filtered bicarbonate ions in the proximal
tubular cells, leading to decreased bicarbonate reabsorption and subsequent
metabolic acidosis.
 Biochemical Features:
 Proximal Renal Tubular Dysfunction: Impaired reabsorption of bicarbonate,
glucose, amino acids, and phosphate in the proximal tubules.
 Hyperchloremic Metabolic Acidosis: Similar to RTA 1, there is a decrease in
blood bicarbonate levels.
 Normal Urine pH: Unlike RTA 1, the urine pH is not abnormally high and can
be acidic.
 Clinical Features: Symptoms may include growth retardation (in children), bone
abnormalities, electrolyte imbalances, and kidney stone formation.
3. Type 4 Renal Tubular Acidosis (RTA 4 or Hyperkalemic RTA):
 Underlying Cause: Impaired renal secretion of potassium (K+) and reduced
ammonium (NH4+) production, resulting in hyperkalemia and metabolic acidosis.
 Biochemical Features:
 Hyperkalemic Metabolic Acidosis: Elevated blood potassium levels and
decreased blood bicarbonate levels.
 Variable Urine pH: The urine pH can range from acidic to alkaline, depending
on the degree of acidosis and potassium excretion.
 Hyperaldosteronism: In some cases, RTA 4 is associated with aldosterone
deficiency or resistance, leading to sodium (Na+) retention and potassium
wasting.
 Clinical Features: Symptoms may include muscle weakness, fatigue, palpitations, and
signs of hyperkalemia.
It's important to note that there are additional subtypes and secondary causes of RTA, which may
have different underlying mechanisms and clinical features. Consult your course material and
resources for specific details relevant to the types of RTA for your biochemistry exam.

specific proteinuri details to know for biochemistry exam; listed and detailed and classified answer
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Proteinuria refers to the presence of abnormal amounts of protein in the urine. It can be an
indication of kidney dysfunction or underlying medical conditions. Here are some specific details
about proteinuria that you should know for your biochemistry exam, classified based on the types
and causes:
1. Transient Proteinuria:
 Description: Temporary proteinuria that occurs due to various factors, such as
strenuous exercise, fever, stress, or exposure to cold temperatures.
 Mechanism: Increased permeability of the glomerular filtration barrier, allowing
proteins to pass into the urine.
 Clinical Significance: Typically benign and resolves on its own without treatment.
2. Orthostatic Proteinuria:
 Description: Proteinuria that occurs when a person is upright and disappears when
they lie down.
 Mechanism: Changes in hydrostatic pressure within the kidneys when in an upright
position.
 Clinical Significance: Usually benign and more common in younger individuals. No
treatment is required.
3. Persistent Proteinuria:
 Description: Proteinuria that is consistently present and detected on multiple urine
tests.
 Causes:
 Glomerular Diseases: Conditions affecting the glomeruli, such as
glomerulonephritis, diabetic nephropathy, or lupus nephritis.
 Tubular Diseases: Disorders that affect tubular reabsorption, such as renal
tubular acidosis or Fanconi syndrome.
 Interstitial Nephritis: Inflammation of the kidney interstitium, often caused
by medications, infections, or autoimmune diseases.
 Amyloidosis: Deposition of abnormal proteins in the kidneys.
 Clinical Significance: Persistent proteinuria is a sign of kidney dysfunction and may
require further evaluation and treatment based on the underlying cause.
4. Nephrotic Syndrome:
 Description: A collection of symptoms characterized by significant proteinuria,
hypoalbuminemia (low blood albumin levels), edema, and high blood cholesterol
 levels.
 Causes: Various glomerular diseases, including membranous nephropathy, minimal
change disease, focal segmental glomerulosclerosis, and membranoproliferative
glomerulonephritis.
 Clinical Significance: Nephrotic syndrome is associated with significant kidney
damage and requires comprehensive management to reduce proteinuria and
manage associated complications.
It's important to note that proteinuria can vary in severity and may require further investigation,
including additional laboratory tests, imaging studies, and clinical evaluation to determine the
underlying cause and guide appropriate management.

glycosuria details to know for biochemistry exam; listed and detailed and classified answer
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Glycosuria refers to the presence of glucose in the urine. It can occur as a result of various underlying
conditions or physiological factors. Here are some specific details about glycosuria that you should
know for your biochemistry exam, classified based on the causes:
1. Renal Glycosuria:
 Description: A condition characterized by impaired glucose reabsorption in the renal
tubules, leading to the excretion of glucose in the urine despite normal blood
glucose levels.
 Mechanism: Defects in the glucose transporters (SGLT2 or GLUT2) in the renal
tubules, resulting in reduced glucose reabsorption.
 Clinical Significance: Renal glycosuria is usually benign and asymptomatic. Blood
glucose levels remain within the normal range, and no treatment is required.
2. Diabetes Mellitus:
 Description: Chronic metabolic disorder characterized by high blood glucose levels
due to impaired insulin production or action.
 Mechanism: Insufficient insulin production (Type 1 diabetes) or insulin resistance
(Type 2 diabetes) leads to elevated blood glucose levels, which can exceed the renal
threshold and result in glycosuria.
 Clinical Significance: Glycosuria is a hallmark sign of uncontrolled diabetes.
Treatment involves managing blood glucose levels through lifestyle modifications,
medication, and insulin therapy.
3. Other Causes:
 Pregnancy: Hormonal changes during pregnancy can lead to mild glycosuria, which is
considered normal.
 Kidney Dysfunction: Glucose excretion in the urine can occur in cases of kidney
damage or dysfunction, such as acute kidney injury or chronic kidney disease.
 Medications: Certain medications, such as SGLT2 inhibitors used to treat diabetes,
 can cause glycosuria as a pharmacological effect.
It's important to note that the presence of glycosuria should be evaluated in the context of the
patient's overall clinical picture. Further testing, including blood glucose measurements, glycated
hemoglobin (HbA1c) levels, and clinical evaluation, is necessary to determine the underlying cause
and guide appropriate management. Glycosuria alone is not diagnostic of diabetes and requires
further investigation for a definitive diagnosis.

aminoaciduria; details to know for biochemistry exam; listed and detailed and classified answer
specific tubular defects details to know for biochemistry exam; listed and detailed and classified
answer
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Aminoaciduria refers to the presence of amino acids in the urine. It can occur due to various
underlying conditions or specific defects in tubular function. Here are some specific details about
aminoaciduria and the associated tubular defects that you should know for your biochemistry exam,
classified based on the specific amino acids affected:
1. Generalized Aminoaciduria:
 Description: Excretion of multiple amino acids in the urine.
 Mechanism: Impaired reabsorption of amino acids in the renal tubules, leading to
their increased excretion.
 Causes: Generalized aminoaciduria can be congenital or acquired and may be
associated with genetic disorders, renal tubular defects, or certain medications.
2. Cystinuria:
 Description: Excretion of cystine (an amino acid) in the urine.
 Mechanism: Impaired reabsorption of cystine in the proximal renal tubules due to
mutations in the SLC3A1 and SLC7A9 genes, leading to increased urinary excretion of
cystine.
 Clinical Significance: Cystinuria can result in the formation of cystine kidney stones,
leading to recurrent episodes of renal colic and increased risk of kidney damage.
3. Hartnup Disease:
 Description: Impaired reabsorption of neutral amino acids (e.g., tryptophan) in the
renal tubules and gastrointestinal tract.
 Mechanism: Deficiency or dysfunction of the neutral amino acid transporter,
resulting in increased urinary excretion of neutral amino acids.
 Clinical Significance: Hartnup disease can lead to tryptophan deficiency, which can
manifest as neurological symptoms, photosensitivity, and skin rashes.
4. Fanconi Syndrome:
 Description: A condition characterized by generalized dysfunction of the renal
tubules, leading to the urinary excretion of multiple substances, including amino
 acids.
 Mechanism: Impaired reabsorption of amino acids and other substances in the renal
tubules, which can be caused by genetic disorders, drug toxicity, or other underlying
conditions.
 Clinical Significance: Fanconi syndrome can present with various symptoms,
including polyuria, dehydration, growth retardation (in children), and electrolyte
imbalances.
Specific tubular defects associated with aminoaciduria may involve various transporters in the renal
tubules, leading to impaired reabsorption of specific amino acids. These defects are often genetic in
nature and can result in specific aminoacidurias, such as cystinuria and Hartnup disease.
It's important to note that the presence of aminoaciduria should be evaluated in the context of the
patient's overall clinical presentation. Further investigation, including quantitative amino acid
analysis, genetic testing, and clinical evaluation, is necessary to determine the underlying cause and
guide appropriate management.

Fanconi syndrome:
1. Description: Fanconi syndrome is a rare disorder characterized by generalized dysfunction of
the renal tubules, leading to the urinary excretion of multiple substances.
2. Classification: Fanconi syndrome can be classified into two main types based on the
underlying cause: a. Inherited Fanconi syndrome: It is caused by genetic mutations affecting
the function of transporters in the renal tubules. b. Acquired Fanconi syndrome: It can be
caused by various factors such as medications (e.g., certain antivirals, chemotherapy drugs),
toxins (e.g., heavy metals), and underlying medical conditions (e.g., multiple myeloma).
3. Clinical Features:
 Polyuria: Increased urine production and frequency.
 Polydipsia: Excessive thirst and fluid intake.
 Failure to thrive or growth retardation (in children).
 Electrolyte imbalances: Loss of important electrolytes, such as sodium, potassium,
and phosphate, leading to abnormalities in their blood levels.
 Acidosis: Inability of the renal tubules to maintain proper acid-base balance,
resulting in metabolic acidosis.
4. Laboratory Findings:
 Urinalysis: Presence of glucosuria (glucose in the urine), aminoaciduria (amino acids
in the urine), phosphaturia (phosphate in the urine), and bicarbonaturia
(bicarbonate in the urine).
 Blood tests: Electrolyte imbalances, metabolic acidosis, and possible renal function
impairment.
Renal Stones:
1. Description: Renal stones, also known as kidney stones or nephrolithiasis, are solid deposits
 that form in the kidneys due to the crystallization of substances present in urine.
2. Classification: Renal stones can be classified based on the predominant component of the
stone: a. Calcium stones: Most common type, composed of calcium oxalate or calcium
phosphate. b. Struvite stones: Formed due to urinary tract infections with certain bacteria,
such as Proteus or Klebsiella species. c. Uric acid stones: Formed due to high levels of uric
acid in the urine. d. Cystine stones: Rare genetic condition (cystinuria) leading to the
formation of cystine stones. e. Other types: Less common types include mixed stones, drug-
induced stones (e.g., indinavir), and rare stones like xanthine or ammonium acid urate
stones.
3. Clinical Features:
 Flank pain: Severe pain in the side or back, often radiating to the lower abdomen or
groin.
 Hematuria: Presence of blood in the urine.
 Urinary symptoms: Frequent urination, urgency, and dysuria (painful urination) may
occur.
 Renal colic: Intense spasmodic pain due to the passage of a stone through the
ureter.
4. Diagnostic Evaluation:
 Imaging studies: Non-contrast CT scan of the abdomen and pelvis is the gold
standard for diagnosing renal stones.
 Urinalysis: Presence of blood, crystals, or infection in the urine.
 Stone analysis: If a stone is passed or removed, it can be analyzed to determine its
composition.
Urinalysis:
1. Description: Urinalysis is a laboratory test that examines the physical, chemical, and
microscopic characteristics of urine.
2. Classification: a. Physical examination: Involves assessing the color, clarity, and specific
gravity of urine. b. Chemical examination: Involves testing for the presence of various
substances in urine, such as glucose, protein, ketones, bilirubin, urobilinogen

continue
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3. Classification (continued): b. Chemical examination (continued):
 Glucose: Presence of glucose in the urine (glycosuria) may indicate diabetes mellitus
or other conditions affecting glucose metabolism.
 Protein: Presence of protein in the urine (proteinuria) may indicate kidney damage
or dysfunction.
 Ketones: Presence of ketones in the urine (ketonuria) may indicate uncontrolled
diabetes, fasting, or certain metabolic disorders.
  Bilirubin: Presence of bilirubin in the urine (bilirubinuria) may indicate liver
dysfunction or obstruction of the bile ducts.
 Urobilinogen: Presence of urobilinogen in the urine may indicate liver disease or
hemolytic disorders. c. Microscopic examination: Involves examining the urine
sediment under a microscope to identify cells, casts, crystals, and other microscopic
components.
 Red blood cells (RBCs): Presence of RBCs in the urine may indicate urinary tract
infection, kidney stones, or other kidney disorders.
 White blood cells (WBCs): Presence of WBCs in the urine may indicate urinary tract
infection or inflammation.
 Casts: Presence of casts (cylindrical structures) in the urine may indicate kidney
damage or inflammation.
 Crystals: Presence of crystals in the urine may indicate conditions such as kidney
stones or metabolic disorders.
 Bacteria or yeast: Presence of microorganisms in the urine may indicate urinary tract
infection.
 Epithelial cells: Presence of epithelial cells in the urine may indicate damage to the
urinary tract or contamination during sample collection.
4. Clinical Significance: Urinalysis is a valuable tool for evaluating various conditions, including
urinary tract infections, kidney diseases, metabolic disorders, and systemic diseases affecting
the kidneys or other organs. It provides important information for diagnosing and
monitoring these conditions and helps guide further investigations and treatment decisions.

urine analysis (procedure; glucose; biluribin; urobilinogen; specific weight; pH; proteins in urine;
blood in urine; nitrites in urine; leucocytes in urine) details to know for biochemistry exam; listed and
detailed and classified answer
ChatGPT
Urine Analysis:
1. Procedure:
 Collection: A clean-catch midstream urine sample is typically collected in a sterile
container.
 Appearance: The color and clarity of the urine are assessed visually.
 Chemical examination: Various chemical tests are performed to assess the presence
of glucose, bilirubin, urobilinogen, proteins, blood, nitrites, and pH.
 Microscopic examination: The urine sediment is examined under a microscope to
detect cells, casts, crystals, and other components.
2. Glucose:
 Test: Glucose oxidase-based tests detect the presence of glucose in urine.
 Clinical Significance: Elevated levels of glucose in the urine (glycosuria) may indicate
uncontrolled diabetes mellitus or other conditions affecting glucose metabolism.
3. Bilirubin:
 Test: Bilirubin is detected using a reagent pad that reacts with bilirubin to produce
color changes.
 Clinical Significance: The presence of bilirubin in the urine (bilirubinuria) may
indicate liver dysfunction or obstruction of the bile ducts.
4. Urobilinogen:
 Test: Urobilinogen is measured using a reagent pad that reacts with urobilinogen to
produce color changes.
 Clinical Significance: Elevated or decreased levels of urobilinogen in the urine may
indicate liver disease or hemolytic disorders.
5. Specific Gravity:
 Test: The specific gravity of urine is measured using a refractometer or a dipstick
pad.
 Clinical Significance: The specific gravity reflects the concentration of solutes in the
urine and can indicate hydration status and renal function.
6. pH:
 Test: pH paper or dipstick pads are used to measure the acidity or alkalinity of urine.
 Clinical Significance: The pH of urine can provide information about certain
metabolic disorders and the risk of urinary stone formation.
7. Proteins in Urine (Proteinuria):
 Test: Protein is detected using a reagent pad or a quantitative laboratory test.
 Clinical Significance: The presence of protein in the urine may indicate kidney
damage or dysfunction, such as in kidney diseases or systemic conditions.
8. Blood in Urine (Hematuria):
 Test: Blood is detected using a reagent pad or microscopic examination.
 Clinical Significance: The presence of red blood cells in the urine may indicate urinary
tract infections, kidney stones, or other kidney disorders.
9. Nitrites:
 Test: Nitrite reagent strips detect the presence of nitrites in urine.
 Clinical Significance: The presence of nitrites in urine may indicate a urinary tract
infection caused by bacteria that convert nitrates to nitrites.
10. Leukocytes:
 Test: Leukocyte esterase reagent strips or microscopic examination detect the presence of
white blood cells in urine.
 Clinical Significance: Elevated levels of white blood cells in the urine may indicate urinary
tract infections or inflammation.