Cystic fibrosis
Mutation in the CFTR gene
CFTR = Chloride channel.
Result is too much luminal chloride so sweat and secretions become hypertonic
800 CFTR mutations described mild to sever
Pancrease exocrine but not endocrine function effected (islet cells not affected)
Lungs: Bronchiectasis, scarring, 95% die of lung infections. S Aureus, Pseudomonas, Hemophilis
Liver: Bile ducts and canniculie become clogged. Hepatic inflammation. Cirrhosis
Small intestine involvement
Genitalia: Ovaries, Testes, Even mild males are absent vas deferens and azoospermia
Clinical:
Sinopulmonary S&S
GI: pancreas, intestinal
Male genitalia always affected
Dx: Sweat chloride analysis & DNA testing
