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