Cystic Fibrosis * Flashcards
What is CF
AR mutation of Chromosome 7 on the CFTR gene
-causing increased mucus production
What does the CFTR gene normally do
Secretes Na and Cl into ducts = Thin Mucus
What are the features of CF
Resp = Thick sputum cough , Infection and bronchiectasis
GIT = Thick secretion, Pancreatic Insuffienct and B.Obstruction
Neonate = Meconium ileum (Thick stool causing bowel obstruction)
Males= Vas degrees atrophy
Salty sweat
How is CF Diagnosed
Heel prick and f508 mutation
Sweat test = High Salt
Foecal elastase negative -(Produced by pancreas, stopped by bowel obstruction)
What are the bedside tests for CF
Sputum culture
Bloods and clotting
Glucose Tolerance test
Spirometry
What imaging investigations are used in CF
Abdo US
CXR
What lifestyle management would you offer for CF
Education
Counselling
Dietician
Chest Physio
What medical management should be offered for CF
Antimucolytics Infective? -Abx -Dornase Alfa -Bronchodilator Pancreatic insufficiency? -Insulin replacement -Vitamin KADE
What is the definitive management for CF (Surgery)
Liver transplant (cirrhosis) Lung transplant
What are the RF for cystic fibrosis
FHx
Caucasian
Caucasian
What is the pathology of CF
Defective CFTR = NaCl retention = Thick mucus
Impaired ciliary clearance as mucus is thick =Stagnation
Stagnation = Increased risk of infection/brocnhiectasis and breathing problems
What are the common organisms causing infections in CF (same as bronchiectasis)
S Aureus
H Influenzae
P Auregunosa
What are the Resp features of CF
Thick sticky sputum w/cough
UPRT Infection
Bronchiectasis
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What are the neonatal features of CF
Meconium Ileus
-stool too thick to pass bowel = obstruction and can’t thrive
What are the GIT features of CF
Thick secretions
Pancreatic insufficnecy
Bowel obstruction
What CF feautures typically affect males
Vas deferens atrophy
-Infertility
Why is fecal elastase negative in CF
Elastase (pancreas product) cant be tested as it is found in stool wo obstruction results in negative test
What value confirms positive sweat test
Sodium and chlorine >60mmol/L in children
Change in what gene causes CF
F508 on CFTR gene found on chromosome 17
What is dornase alfa
Treats CF by decreasing viscosity of mucus at the lungs
