Cystic fibrosis Flashcards
1
Q
What is cystic fibrosis?
A
An autosomal recessive disease
2
Q
What is the cause?
A
It is caused by a mutation in the cystic fibrosis transmembrane conductance regulator gene in chromosome 7.
3
Q
What conditions are associated with cystic fibrosis?
A
- Lung disease
- pancreatic insufficiency
- diabetes
- male infertility
4
Q
What investigations should be carried out?
A
- Sweat test
- Gunthrie test in neonatals. Detects raised serum immunoreactive thrypsinogen.
