Cystic fibrosis. 4. Abnormalities of airway epithelial function and the implications of the discovery of the cystic fibrosis gene

Abstract

Details of ion transporting abnormalities in cystic fibrosis airway epithelium are now known. The central hypothesis, that excessive drying of the airway surfaces is a primary event that leads to all the manifestations of the respiratory insufficiency in cystic fibrosis, is not proved. The hypothesis is, however, consistent with the known transporting abnormalities and is strengthened by the modest clinical improvement produced by a strategy designed to correct the transporting abnormalities. The discovery of the cystic fibrosis gene, together with the presumed structure of the protein product, provides a focal point that must eventually connect the functional abnormalities with the genetic defect. The cellular function of the cystic fibrosis transmembrane regulator must now be the major target in research on cystic fibrosis. Strategies for treatment based on known cellular and molecular abnormalities are beginning to emerge but will be undoubtedly more focused once the responsibility of the cystic fibrosis transmembrane regulator is known.