t
others
that can be replace or infiltratenormaltissuein an organ
Cf is Autosomalressivedisorder involve GFTRgene onchromosome
which stands
for cystic fibrosis Transmembrane Regulator µ
code for the CFTRprotein very Baddes
this gene
develops when i there's a mutation in CFTRgene
but because it's autosomalrecessive we need
mutatedCFTRgene on chromosome 7 H
1 from 41from 81
I
Kow if
mom 4 dadbothhaveone
copy ofthemutated
gene
2 onenormalgene they'veconsidered
carriers 2don't
havetheds
Inheriting Cf is more
common in people
of European descent
CFTRprotein is a channel protein that pumps
d intoverious secretion those d helpdrawHer
into
secretion whichends
up thinning themout 2 I
Themostcommon mutation is a f 508
In Newborns 8 thick secretion affect the
baby's
mechonium or 1ststool which can
get thick sticky
get stuck in baby's intestines x notcomeout
this called Meconium ileusfourgicalEmergency
Early
In childhood 8 Pancreatic insufficency is themost
promininent effect of Cf becausethicksecretionjamup
the
pancreaticducts notallowing digestiveenzymeto make it
to the smallintestine aren't
of thoseenzymeProteins fat
absorbed
onetimes lead to I Poorwt again
2 failuretothrive
2
Fatmalabsorption leadto 3 steatorrhea
3
Pancreas get damagebecause backedup digestive
Acute
enzymesdegradethecells
lining the pancreaticduct cursinglocalinflamations
chronic
with the development of
cysts 2 fibrosis If
Destruction of pancreatic tissuecan also compromise of the endocrine function
of the pancreas causing Insulindependent diabetes
later
childhood 8 It's usuallynotuntillater in childhood
thatlung proplems start to cropup
pharynx
Normally Thecilia hairlikeprojectionhiring the airways
Isb Clean movingmucus which catchesthingslikedebris
by
4 bacteria to the pharynx ciliaryaction
muco
8Thick mucus get a lot harder to clear mucociliary action becomesdefective
INTF
bacteria is allowed to chronically colonizethe lungs
bacterialload4 causes Symptoms like
If the
Cough afever 2 I lung function 3 changes in QR
this called Cf exacerbation ttb by Antibiotics ttt e
Antibiotics
Pneumonia one ofexample of Cf excarbation
Problematicbacteria
exam SA x PA
The
bacteria usuallyform a biofilmwhere
individual bacterialcells are fixed in matrix
SA
ofslime which
protectthemfromtheimmune
as well as antibiotics PA
system
chronic bacterial infection inflammation
lead to Bronchiectasiswhich is airway
Wall damage causing permanentdilation
of the bronchi
If inflammationerodes into 131Us leadto
Hemoptysis
Maasai
other issues 80
tubesthat transportthe
testes
spermfrom the
to the urethra in penis to fungus
Of OFwhere
the fingernailsbegin
to spoonaround
the fingertips
Diagnosis8
1 Newbornscreening Cf in commonarea
2
Detect IRT inblood I
3 sweattest of et Cf is confirmed
e of
unlikehe
lungs a pancreaswhere d
can'tgoout when CFTRisn'tworking
in sweatglands d can'tcomein or
bereabsorbed so Pet insweat
parents
of children e Cf sometimes notice that when kissing their baby
thebaby tastes salty
can allbesupplemented to help
majorgoal
postnutrition apt absorber
nutrients
Which
to loosens the maocus
by
literally banging on the
chest
as well as inhalers
4 Cf lung ds is obstructive
regular like asthma 4COPD
because of the chronicinfectionsx loss of pulmonary
function over time
thesedrugsgoodexamples
7 New
is lumacattor I Ivacaftor A
t.MG I
Genatic Autosomal Ressive Very Badds Can affect
any organ until know no ttt just symptomatic
ttt like Bronchiectasis give vaccine antibiotics
Cf it's systematic ds no ttt symptomatic
only treat the complications
too
Malabsorption DI Bronchiectasis
uit
Cf DX depends on symptoms ooo
mainly symptomatic
at 4 Syr IS 20 yr childhood
age complain since
c birth cough large amount sputum when exam find
dextro cardia may find in children liver cirrhosis so
Cf is difficult to DX
OF Pt 15 yeo do cough since birth twin Cf
Cf excerbating oo Pt complicated e Bronchiectasis x
complain large amount sputum i mucoprulent it fever
infection
In SH rare
Important clinical presention Complication Invest
Sweat d test X Gene
Cf affect cillia any site Nasal polyps nasal
infection lung infection Bronchiectasis
ttt not cure
