Cystic Fibrosis Flashcards
1
Q
What is cystic fibrosis?
A
A mutation in the CFTR gene leading to a defect in chloride secretion and sodium absorption across airway epithelium
2
Q
How does CF present?
A
Failure to thrive, meconium ileus, cough, wheeze, recurrent infections, bronchiectasis, pneumothorax
3
Q
What investigations would you do?
A
Sweat test, genetics, faecal elastase
4
Q
How do you manage CF?
A
Regular chest physio, management of associated problems, antibiotics, mucolytics, pancreatic enzyme supplementation
5
Q
What are problems associated with CF?
A
Male infertility, DM, arthritis, cirrhosis
6
Q
What does Na/Cl channel dysfunction result in?
A
Thick mucus plugs
7
Q
What infection is most likely in CF?
A
Pseudomonas aeruginosa
8
Q
How does exocrine pancreatic insufficiency present?
A
Malabsorption, steatorrhoea
