Criado por Ellie Quinn
mais de 10 anos atrás
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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 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
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