Cystic Fibrosis

Average survival 37 years (getting better) Pulmonary disease, persistent infections Meconium ileus (in newborns) – blockage of the bowel Pancreatic insufficiency CFTR-related diabetes Liver disease Male infertility Reduced fertility in females F508 commonest mutationR117H - mild mutationNew drug Kalydeco only effective for G551D mutation - reverses the anomaly 

Diagnosis: guthrie’s test at birth – identifies homozygotes (not carriers!) If IRT is raised – test for 5 most common mutations Sweat test is still the gold standard for diagnosis

Pancreatic insufficiency – take crion Antibiotics 4 times a day Vitamins Physiotherapy Liver transplant Lung/Heart Transplant    

Autosomal recessive

Clinical features

diagnosis

management

inheritance