Created by Ellie Quinn
over 10 years ago
|
||
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
Want to create your own Notes for free with GoConqr? Learn more.