Cystic Fibrosis

  • Robert Dinwiddie
  • S. Ammani Prasad
Chapter

Abstract

Cystic fibrosis (CF) is the commonest serious inherited chest disorder in caucasian people. There are estimated to be around 6000 cases in the UK at present and it is thought to affect about one in 2500 live born infants (Dodge et al., 1993) The illness is inherited as an autosomal recessive with a one in four chance of recurrence in further children by the same parents. The genetic abnormalities of CF have now been specifically identified (Rommens et al., 1989). The abnormal gene lies on the long arm of chromosome number 7 and in each clinical case two cystic fibrosis genes combine to produce the illness. The most commmon gene is known as delta F508, which results in a deletion of the phenylalanine residue at position 508 on the CF protein. Since its initial discovery a very large number of other genes, currently over 400, have been described which can result in CF. The abnormal genes code for a protein which is called the cystic fibrosis transmembrane regulating protein (CFTR) (Gregory et al., 1991). Intensive studies continue in order to relate the genetic defect to the specific protein abnormality.

Keywords

Cystic Fibrosis Respiratory Syncytial Virus Chest Physiotherapy Forced Expiration Cystic Fibrosis Lung Disease 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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Copyright information

© Springer Science+Business Media Dordrecht 1995

Authors and Affiliations

  • Robert Dinwiddie
  • S. Ammani Prasad

There are no affiliations available

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