Cystic fibrosis Flashcards
1
Q
Definition
A
Commonest, life-threatening autosomal recessive condition
2
Q
Aetiology
A
Mutation in the CF transmembrane conductance regulator (CFTR) on chromosome 7
> 800 mutations but most common f508 deletion
Chloride channel leads to combination of defective cl secretion, increase NA absorption
increased thickness of secretions (respiratory tracts, exocrine pancreas)
3
Q
Diagnosis
A
Genetics: screening newborns for known CF mutations IRt in serum
Sweat test: increased CL levels
Faecal elastase test: exorcrine pancreas dysfunction
4
Q
Complications
A
Lung - lung infections, bronchiectasis, ILD
Pancreas - exocrine pancreas insufficency,
Fertility - male 97% due to congenital bilateral abscence of vas deferens
