Cystic Fibrosis

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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 mutation

R117H - mild mutation

New 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