Defective Chloride transport due to defective CFTR gene (usually a 3base pair deletion)
Aut recessive
Thick mucus secretions causing recurrent sinopulmonary infections, bronchiectasis, FTT
Psedomonas causes Pneumonia (Treat with 2 agents with antipseudomonad coverage)
Pancreatic insufficiency leading to Fat malabsorption with deficiency of vitamins A D E and K, Chronic diarrhoea
Meconium ileus (failure to pass meconium, bilous vomitting, history of polyhydramnios, ground glass appearance on X ray, intestinal perforation)
Positive sweat chloride test (done twice) is diagnostic.
Tmt: high calorie diet, pancreatic enzymes replacement, fat soluble vitamins supplementation. Only life saving tmt is bilateral lung transplant.
Median survival is 30yrs
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