Cystic Fibrosis

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Notas sobre Cystic Fibrosis, criado por Ellie Quinn em 31-05-2014.
Ellie Quinn
Notas por Ellie Quinn, atualizado more than 1 year ago
Ellie Quinn
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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