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    PCKD

    Copyright:

    © All Rights Reserved
    Download as DOCX, PDF or read online from Scribd
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    6 views3 pages

    PCKD

    Uploaded by

    Sophia Begg
    PCKD

    Copyright:

    © All Rights Reserved
    Download as DOCX, PDF or read online from Scribd
    Flag for inappropriate content
    of 3
    ‘Autosomal dominant polycystic kidney disease ‘Autosomal dominant polyyatic keney daate (ADPKD) is fn inheted daoroer usually prserting in act If tie cheractarzed by the develepmert of mtiole renal ets, ‘arab aszacited win etre (ainlyheoatc and ear ‘iovenoua apnermaiien ADPKDiety far thamest common Inerted naphrapaty, wih a pravaierea rae renging Fer 1400 1611000 n white peietons. 1 accuse far 35-10% ofl patients commencing reguey claves inthe Wee! ene lepathies, p22) In aboct 594 of o24e0, the gore reoponsila(PKD1) has 418 an intagia membrane glycoprotein ivoved in calnie al ana/or celoratininraion and functions aa a ‘mechenosersa. The preteen corespanding to the PRDE {gene anosers to unser as a alcumion char, equating alsin influx andlor ralaase fom ntacsllar steve Polyeysiont acts as the regulator of PKD? chara! actity by iis covceaizaton en ella of colacing tubular cals, Disrcton cf he poleystin patway resus i reduced cytoplasmic cacum, which In incpal cols p. 682) of te colectrg duct causes ar Ircease in cAVP via stiruaton ffcacumérhibiabe aden! cyease ard inhibition of cAMP Dhesproclastaases, Defecive clay signaling rests in Clsorerie division of the ces by uprgulaon of marmae Jan target of moarune (RTOR) ard is connsteam col cyclin khases lore the nephron, resting in ys ermater. Ih ADPHD, 196 of al repivors acqure a second somal ‘mutation fat ncombinaton witha geeiine muzation resus Ineystogoness. Procressive loss of ronal function is usualy airbuted to mechancal coreresson, aponcss of fe eaty tissue and reacive frosis. Patents with ADPKD ‘experience deciing real function ata arabia ate which |S cue 1 ciscreparcy in the grown and size of re cys: patlans with cic gronh Fi cys size as detained by MRL ‘ose renal tuneten mere rapidy. Stategies to Sow re (roma fate of cysts nave Deen very eflecve n presereng anal funtion in aniral modes. These theenes routs the vasopressin Ve rector Mnbior (vattan, 1 recurs CAMP in fe prepa cts, roscovtne fa cyin-cenencert ‘nase inioten and aruiorateranve tnerapy wih selma (TOR mneton. Clinical features trical preseration may be at ary age from the second seca. Prasentng eyptoms reie 1 Acute iin pain ander hasmanuia ning 10 heemerhage Inte a eet, eps fection or wna tact stone formation * Lon or abdominal cisco cing tome neraasing she of ne kenays 1 Suearaennnd! neamerhage atsoasted uth barry araunsm nmure + Compleaions of hypertension + Compleatons of associated Iver cysts 1 Symptors of waemia andr anaemia associated with CRD. Eytivaamia ie rae compleston arc prsontation of ADPKD. ‘Te natural history of me diseas Is cre of progressive (CKD, sonetines cuncuated by acu eosodes of lan pain ‘ang haeratura, and commonly assocated wi the cove ‘cpnert of typenessicn. The rate of progression to CKD {see zbove) Svaiabie. Te ceterninarts of progression are both gesetc and rowgensic Inthe PKD2 form. real cysts ‘coveloa nore sony arcESKD occu 10-13 yoarsiata tan Inne PKD1 fern, Gercer fects era prognosis. ales wth ‘ADPKD reach ESKD 56 years earier a lees. Theo is ‘lage variably inthe age at encstage reat fare win fami, even between aflecied monozygotic wins. Complications and associations Pain 4A minorty of peters suter chrania wana! pain eesinare {a commen analgesics, resimatly o1ing to tha pressure ‘atact of iga cyte. Sutpies sacomoratsion of uh eyste ‘apoaars 56 of banat n about taenhirse of patente Lasaoseopie aystcacaniagten 8a minerally mate aber. rave tenga cyst tection “The resgense to standard ainactovil therapy @ elon poor ‘oning te pear pensvaten af eowertanal anes acrose the gyst wal Lpaphie antibotie acive against Gram rogatvetaziera exch ae co-rimexazele and fueraqunoia: rea, pererae ino the cya batter ere thar use hae gray improved the raatrent ote competion, Renal ealoul “Trase are clagrosed in abeus 10-20% of patiots wth ADPKD. Frequerty, they are composed of ure aod and hence, radolucent 90 Fig. 1239) Cosuctg ot pant ‘stores ee wouter ifort than ae scres in paverts “wih nema unary acts. Percutaneous stove moval and ‘ecracerporea inot'psy sate, Hypertension Hypatension area and very common festurecfADPXO. Bleaion of bead pressure, sil itn the ronal ange,‘ ‘ceectatle In yourg afected inciduals and is assoced ‘win an ineraase lft vanticuar mass. Left venrovar Fypenroony occu 10 2 greater cece fer 2 gWven rise in ood pressure in ADPxD compared wih ether ral cscr- ‘cars and wth essential nypartension. nvareelacivation ot the renimangocensn system is Invched n patiogeress, ‘ang ACE bios are logical frtire agers veatment Eaty convo cf Dood pressure is essertial as carcinvascuar ‘comriicaiors area malor cause of dear in ADPRD. Progressive CKD “Te sre most earious compicaton of ADPKD. At omene lerivatinraae palo 60 mimn, the et ot deena NGF Jauegas SmLimin aaah yaar, whieh More ap ha in ‘inar prover era casters. Tha probably! oang lve ‘nthastamueng als or vargaaviaton by he age 9! 70 Yyanrsis oft scar 0 209% Sura alas an ragularhaemnae ‘lye ane attr ronal verspaniatn in ADPKD ar betar ‘than shoes in patie wth ata sry anal ieesese Hepat cysts Appronimatay 29% of paints have hapate eyes and ina rina ef the eatinte mavehe enargeren a! the pay ‘ye here 200s Bain, infetion of eyes ane, mer rary, ‘compreeicn of he ble cut, porta! vain ar hapate verout ‘eution cout Rarsy, pecuiareous aranage of saul Figura $2.58 Ultrasound gaan of a palyeystic kidray, showing an eriargea Koney win many eysi of vara he, ‘ysis, aoarancepe tanastaon arava sania hanatactony isrecessary nected cysts may require drainage. Intracranial anouryem formation [About 10% cf ADPAD patios have an asynptomati tac ‘aril areuyam (sep. 1108) and the prveleresis trie e8 ‘igh nthe subgroup ef paar wth a fami ictory of auch areuyjame oo subaraanvoid haemerage. Suen haar ‘age praca in or 20% 50 0% 2! ca8a8 by preman ntory neacarnes ‘rom a few nours Up to 2 weeks before ‘ha ensat of scbaraonnoie 8eesing, HaacaD%e of S1d0K0 ns or unusua characte or saverty in a pavene wit, ADPKD shoud prompt invesigatcn. Conastentanced spiel OT oF MR angogachy are the Gast investigations, Seraeriog ler ivaerenal anguryem in ADPKD is curenty ‘ecormandec ‘© patients aged 12-40 years wo have & peaitve fami hit. Mitral vaive prolaose ‘This four 2096 of navavels wth ADPKD. Diagnosis Physcal exarnaton cormeny reveals lage, ireguar liheys and possibly hepetomegly.Defntive dagrosis's feebiahed by Utenoure examination fig. 1258) waver, ue real mggingtachriques may be ecunsea, especialy In subjcts under he ape of “5 yes Differential diagnosis A number of conditions ean rime eines and aciiages anpearance of PKD (Bex 12.7), Soreening ‘Thechlctan anc sivings o paves wit eiabished ADP

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