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Cystic fibrosis is the most common potentially lethal autosomal recessive disorder
in Caucasian populations, characterised by chronic suppurative lung disease and
chronic exocrine pancreatic insufficiency. It affects 1 in 2500 infants
and the frequency of carrier heterozygotes is estimated to be 5%. The predominant
symptoms of CF are attributed to epithelial abnormalities in the respiratory,
digestive and reproductive tracts: - although lungs are normal at birth,
recurrent respiratory infection is a major presenting feature
- 85% of
CF patients have pancreatic insufficiency
- 10% of CF newborns suffer meconium
ileus
- patients are also prone to hepatic cirrhosis and male infertility
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