m
m


pediatric - ahmad nazir

 Background

Ê m
tic Fibro
i
(mF) wa
fir
t recognized in 1938

Ê It
genetic nature and auto
omal rece

ive inheritance
pattern were de
cribed in 1946
Ê In 1948, patient
with mF were ob
erved to lo
e exce



alt in their
weat which led to development of the
chloride
weat te
t
Ê In 1989, DNA mutation
a

ociated with mF were
identified on chromo
ome 7. The gene product wa

called the c
tic fibro
i
tran
membrane conductance
regulator (mFTR)
Ê During the 1990
, major in
ight
were gained into the
function of mFTR and the pathoph
iolog of mF
 Ôhat i
m
tic Fibro
i

Ê m
tic fibro
i
(mF) i
a di
ea
e that cau
e
the
bod to make thick,
tick mucu
. Thi
cau
e

problem
in two major area


The lung

The re
pirator

tem

Ê vealth lung
produce mucu
, which protect

the airwa
and make
it ea
ier to breathe
Ê But for a per
on 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 ea
il
grow, and bacteria cau
e
infection

 Kpidemiolog
Ê In the US, about 30,000 individual

have mF; mo
t are diagno
ed 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 po
itive
weat te
t

 Ri
k Factor

Ê Significance - People experience frequent lung
infection
, including pneumonia, which cau
e

lung damage and breathing problem

Ê enetic Di
order - The di
order i
cau
ed b a
mutation in the gene that help
create
dige
tive juice
, mucu
and
weat. The
defective gene tell
the bod to produce
exce

ive thick mucu

Ê ene marrier
- If an one in the famil ha
had
c
tic fibro
i
, children in that famil have a
greater ri
k of having it a
well.
Ê Kthnic mon
ideration
- The ri
k i
greate
t for
people of Northern Kuropean, who have a one
in 29 chance of carr ing the mutated gene.
Al
o at ethnic group
in the U.S. found that
vi
panic
hold a one in 46 chance of having
the defective gene, Black
one in 65 and
A
ian
one in 90
 mau
e

Ê mF i
an inherited condition that i
cau
ed b a

fault gene called the mF tran
membrane
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 lo
e weight & hard to ab
orb
nutrient

Ê


weat gland
produce
alt
weat, ea
il
deh drated
Ê 
  

  (male and female)
complication

uch a
infertile
Ê
    have weaker bone
(due to le


mineral
), cau
e painful &
wollen joint

 momplication

Ê 
 

 
[
ome of the common complication
include a ti

ue
growth
in the no
e (na
al pol p
), tearing of lung ti

ue,
which trap
air between the lung and the che
t wall
(pneumothorax) and ma cau
e the lung to collap
e.
[ The child ma be coughing up large amount
of blood,
damaged airwa
(bronchiecta
i
) which can lead to
infection
Ê ° 
 
[ will cau
e inte
tinal blockage
, rectal
prolap
e, enlarged liver &
pleen and liver
di
ea
e
[ An inflammation of the pancrea

(pancreatiti
), diabete
and even bone
thinning (o
teoporo
i
) can happen
 rife Kxpectanc
Ê n average, people who have
c
tic fibro
i
live into their mid-
to-late 30
, although new
treatment
are making it
po

ible for
ome people to live
into their 40
and longer.
Ê People who have a mild form of
c
tic fibro
i
ma have a
normal life expectanc .
Ê vowever, there i
no cure for
c
tic fibro
i
et.
 Diagno
i

Diagno
i
of mF can be determined at three
tage


 ±

 
 Amniocente
i
 In a fetu
with mF, the enz me
are decrea
ed
 ±
 
 Immunoreactive tr p
inogen te
t (IRT) If the tr p
inogen level

are elevated, mF i
evident
 

 Klectrol te
weat te
t If higher
odium detected, mF i
pre
ent

mhe
t x-ra
,
putum culture

Stool examination

 Doctor Management

 
 
 include

ͻ ronc odilator
(
uc a
al uterol) are u
ed to make reat ing
and coug ing u mucu
ea
ier
ͻ mucol tic
(
uc a
acet lc
teine), t in
mucu
in t e lung
and
al
o in t e inte
tine

ͻ in aled
alt ater
olution ( ertonic
aline) el
reduce inflammation in t e air a
, and it i
lo -co
t too

°  
 involve

ͻ a dige
tive enz me relacement t era (
uc a
Pancrea
e), to el t e inte
tine

a
or nutrient
from food
ͻ a nutritional t era to el relace lo
t nutrient

uc a
taking vitamin
; eating
ig -calorie, ig -fat food

ͻ revent inte
tinal lockage
it
tool
oftener
(to avoid con
tiation)
Ê '

Ê 

 

Ê


 i

ometime
needed to treat complication
of c
tic
fibro
i
. Procedure
include
[ a che
t tube drainage and po

ible thoraco
cop , to treat
a collap
ed lung (pneumothorax)
[ a lung tran
plant
[ a repair of an inte
tine that ha
collap
ed in
ide it
elf or
the removal of a bowel ob
truction
[ a removal of na
al pol p
or endo
copic
inu

urger
[ abdominal or perineal
urger for rectal prolap
e
 Ph
iotherap Management
 m
 



 to prevent and control lung infection

 loo
en and remove thick,
tick mucu
from the lung

 prevent or treat blockage
in the inte
tine

 provide enough nutrition
 help prevent deh dration (a condition in which the bod doe
n't have enough
fluid
)

There are
everal different airwa clearance

technique
, but onl
ome of them can be u
ed
in babie
. Thi
i
becau
e babie
cannot cough
nor do breathing exerci
e
to command, and
o
treatment ha
to be given to them
±



Ê The patient i
placed in a head or che
t down
po
ition while therapi
t doe
the treatment
Ê It u
e
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 con
i
t
about 5 minute

in each po
tural drainage po
ition twice a da
Ê Treatment
hould alwa
be given
before a feed. ive treatment with the
bab l ing on a pillow, en
uring the
bab 
head i
full
upported
Ê Po
ition the bab with the head
lightl
lower than the hip
in order to help

ecretion
to drain
  al
o known a
che
t clapping, i
u
ed to help
loo
en
ecretion
. In babie
it i
u
uall
combined with po
tural drainage po
ition

 To perform percu

ion, a cupped hand i
u
ed
to clap the che
t firml and rh thmicall , over
a la er of clothing or a towel
 Man babie
quite enjo having percu

ion
m  and it i
not painful or uncomfortable.
 If the bab crie
during treatment, it i
not
nece

ar to
top unle

the bab i


 
di
tre

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

± 
 
±

±± ' Thi
technique u
e
a
oft
face ma
k which i
placed on the bab 
face and give
a
mall
amount of back pre

ure to the lung
when the bab breathe
out

±  Including exerci
e, it help
to keep the che
t

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

Although babie
cannot exerci
e them
elve
, 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 ±  
 

Kxerci
e pla
a huge and ver
important role in treatment at
thi
age, not ju
t for the che
t
but al
o for bone health,
mu
cle
trength and po
ture.
mhildren
hould be encouraged
to do an beneficial exerci
e

uch a

port
,
wimming, etc.
 

  
   

 

Ê   

Ê  
 


 

 


  

Ê  

 




 

 
Ê 

 



  

 monclu
ion
Ê Not onl affect
adult
, it al
o affect

children of all age
Ê Mo
t babie
who were diagno
ed had

ignificant problem
with their che
t and
their weight becau
e c
tic fibro
i
i
an
inherited di
ea
e
Ê Ph
iotherap management involve

certain t pe
of movement
& coughing,
known a
airwa clearance technique

called che
t ph
iotherap , plu

equipment like PKP ma
k
Ê mF ha
no cure. But, treatment
have
greatl improved