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m m

pediatric - ahmad nazir


Background

Ê m tic Fibroi (mF) wa firt recognized in 1938


Ê It genetic nature and autoomal receive inheritance
pattern were decribed in 1946
Ê In 1948, patient with mF were oberved to loe exce
alt in their weat which led to development of the
chloride weat tet
Ê In 1989, DNA mutation aociated with mF were
identified on chromoome 7. The gene product wa
called the c tic fibroi tranmembrane conductance
regulator (mFTR)
Ê During the 1990, major inight were gained into the
function of mFTR and the pathoph iolog of mF
Ôhat i m tic Fibroi
Ê m tic fibroi (mF) i a dieae that caue the
bod to make thick, tick mucu. Thi caue
problem in two major area

The lung

The repirator  tem


Ê vealth lung produce mucu, which protect
the airwa  and make it eaier to breathe
Ê But for a peron with mF, the mucu i thick
and tick , and can clog up the lung
Ê The mucu i thick due to an altered balance
of alt and water in the lung
Ê Thi create a place where bacteria can eail
grow, and bacteria caue infection
Kpidemiolog
Ê In the US, about 30,000 individual
have mF; mot are diagnoed b ix
month of age; manada ha about
3,000 citizen with mF
Ê From 1987 to 2003, 16 patient
were confirmed to have mF in
Mala ia b poitive weat tet
Rik Factor
Ê Significance - People experience frequent lung
infection, including pneumonia, which caue
lung damage and breathing problem
Ê enetic Diorder - The diorder i caued b a
mutation in the gene that help create
digetive juice, mucu and weat. The
defective gene tell the bod to produce
exceive thick mucu
Ê ene marrier - If an one in the famil ha had
c tic fibroi, children in that famil have a
greater rik of having it a well.
Ê Kthnic monideration - The rik i greatet for
people of Northern Kuropean, who have a one
in 29 chance of carr ing the mutated gene.
Alo at ethnic group in the U.S. found that
vipanic hold a one in 46 chance of having
the defective gene, Black one in 65 and
Aian one in 90
maue

Ê mF i an inherited condition that i caued b a


fault gene called the mF tranmembrane
conductance regulator (mFTR gene).
Ê In order to develop mF, two mF gene will be
inherited; one from our mother and one
from our father.
Ê If ou inherit onl one mF gene, ou're called a
carrier and won't have  mptom.
Ôhen both parent are
carrier, with each
pregnanc there i a

one in four chance


of having a child
with mF

two in four chance of having a child who i a carrier

one in four chance of having an unaffected child


Sign and S mptom
Ê r  


  thick, tick mucu
buildup, bacterial infection
Ê ± 
      pancreatic duct
blocked, children loe weight & hard to aborb
nutrient
Ê  weat gland produce alt weat, eail
deh drated
Ê  
   
   (male and female)
complication uch a infertile
Ê      have weaker bone (due to le
mineral), caue painful & wollen joint
momplication
Ê  

 
[ ome of the common complication include a tiue
growth in the noe (naal pol p), tearing of lung tiue,
which trap air between the lung and the chet wall
(pneumothorax) and ma caue the lung to collape.
[ The child ma be coughing up large amount of blood,
damaged airwa  (bronchiectai) which can lead to
infection
Ê °    
[ will caue intetinal blockage, rectal
prolape, enlarged liver & pleen and liver
dieae
[ An inflammation of the pancrea
(pancreatiti), diabete and even bone
thinning (oteoporoi) can happen
rife Kxpectanc
Ê n average, people who have
c tic fibroi live into their mid-
to-late 30, although new
treatment are making it
poible for ome people to live
into their 40 and longer.
Ê People who have a mild form of
c tic fibroi ma have a
normal life expectanc .
Ê vowever, there i no cure for
c tic fibroi et.
Diagnoi

Diagnoi of mF can be determined at three tage


 ±
 
 Amniocentei In a fetu with mF, the enz me are decreaed
 ±  
 Immunoreactive tr pinogen tet (IRT) If the tr pinogen level
are elevated, mF i evident
 

 Klectrol te weat tet If higher odium detected, mF i preent

mhet x-ra , putum culture

Stool examination
Doctor Management
 

 
 include
ͻ ronc odilator (uc a al uterol) are ued to make reat ing
and coug ing u mucu eaier
ͻ mucol tic (uc a acet lc teine), t in mucu in t e lung and
alo in t e intetine
ͻ in aled alt ater olution ( ertonic aline) el
reduce inflammation in t e air a , and it i lo -cot too

°    
 involve
ͻ a digetive enz me relacement t era (uc a Pancreae), to el t e intetine
a or nutrient from food
ͻ a nutritional t era to el relace lot nutrient uc a taking vitamin; eating
ig -calorie, ig -fat food
ͻ revent intetinal lockage it tool oftener (to avoid contiation)
Ê '  
Ê 
 
Ê 

 i ometime needed to treat complication of c tic
fibroi. Procedure include
[ a chet tube drainage and poible thoracocop , to treat
a collaped lung (pneumothorax)
[ a lung tranplant
[ a repair of an intetine that ha collaped inide itelf or
the removal of a bowel obtruction
[ a removal of naal pol p or endocopic inu urger
[ abdominal or perineal urger for rectal prolape
Ph iotherap Management
   m
  


 to prevent and control lung infection


 looen and remove thick, tick mucu from the lung
 prevent or treat blockage in the intetine
 provide enough nutrition
 help prevent deh dration (a condition in which the bod doen't have enough
fluid)

There are everal different airwa clearance


technique, but onl ome of them can be ued
in babie. Thi i becaue babie cannot cough
nor do breathing exercie to command, and o
treatment ha to be given to them
±

 
Ê The patient i placed in a head or chet down
poition while therapit doe the treatment
Ê It ue the force of gravit to drain ecretion
from the lung and into the central airwa
where the can either be coughed up or
uctioned out
Ê In babie, treatment conit about 5 minute
in each potural drainage poition twice a da
Ê Treatment hould alwa  be given
before a feed. ive treatment with the
bab l ing on a pillow, enuring the
bab  head i full upported
Ê Poition the bab with the head lightl
lower than the hip in order to help
ecretion to drain
 alo known a chet clapping, i ued to help
looen ecretion. In babie it i uuall
combined with potural drainage poition
 To perform percuion, a cupped hand i ued
to clap the chet firml and rh thmicall , over
a la er of clothing or a towel
 Man babie quite enjo having percuion
m   and it i not painful or uncomfortable.
 If the bab crie during treatment, it i not
necear to top unle the bab i

  ditreed. mr ing i quite an effective wa of
expanding the lung
±  

±

±± '  Thi technique ue a oft
face mak which i placed on the bab  face and give a mall
amount of back preure to the lung when the bab breathe out

±   Including exercie, it help to keep the chet


clear (thi i becaue ph ical activit , laughing and game make
the children breathe more deepl )

Although babie cannot exercie themelve, general pla activitie


uch a bouncing (e.g. on a Swi Ball) and rolling on a mat can be
tarted traight awa , and, a the bab grow, more and more
activitie can be introduced
Ê ±     

Kxercie pla  a huge and ver
important role in treatment at
thi age, not jut for the chet
but alo for bone health,
mucle trength and poture.
mhildren hould be encouraged
to do an beneficial exercie
uch a port, wimming, etc.
 
     
    
   

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moncluion
Ê Not onl affect adult, it alo affect
children of all age
Ê Mot babie who were diagnoed had
ignificant problem with their chet and
their weight becaue c tic fibroi i an
inherited dieae
Ê Ph iotherap management involve
certain t pe of movement & coughing,
known a airwa clearance technique
called chet ph iotherap , plu
equipment like PKP mak
Ê mF ha no cure. But, treatment have
greatl improved