Diagnostic Approach of Cystic Fibrosis

Abstract Cystic fibrosis (CF) is the most common fatal genetic disease in Caucasians, with autosomal recessive inheritance, a carrier rate of 1 in 25, and an incidence of about 1 in 2500 live births. Cystic fibrosis is a disease of exocrine gland function that involves multiple organ systems but chiefly results in chronic respiratory infections, pancreatic enzyme insufficiency, and associated complications in untreated patients.Currently, genetic technology allows identification of sibling carriers and antenatal diagnosis within families.

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