Clinical Description

Cystic fibrosis is often considered the most common serious autosomal recessive disease in Caucasians of northern European ancestry. It is a multiorgan condition, characterized by abnormally viscous secretions from epithelial cells in various tissues, leading to duct obstruction and infections. The most prominent and potentially lethal site for these phenomena is the lung, but CF patients also may suffer from pancreatic exocrine insufficiency, intestinal obstruction (called meconium ileus in the perinatal period), diabetes, biliary cirrhosis, growth retardation and failure to thrive, dehydration because of excessive salt loss in sweat, and sinusitis. In addition, virtually all males with classical CF exhibit a congenital malformation, bilateral absence of the vas deferens (CBAVD), causing infertility.

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