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cystic fibrosis

 
   

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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