Cystic fibrosis Flashcards
1
Q
What does CFTR encode?
A
cAMP-regulated chloride channel
2
Q
In the UK, 80% of cases are due to which mutation?
A
Delta F508, 7q
3
Q
Carrier rate of delta F508?
A
1 in 25
4
Q
Presenting features? (4)
A
Neonatal- meconium ileus
Recurrent chest infections
Malabsorption (steatorrheoa, failure to thrive)
Liver cirrhosis
5
Q
Other features/complications of CF
A
Rectal prolapse Coagulopathy Portal hypertension Heartburn/peptic ulcers Infertility (male)
6
Q
Management of CF (4)
A
Regular chest physio and postural drainage
High calorie, high fat diet
Vitamin supplements
Pancreatic enzymes
