RW Wilmott

Abstract

Cystic fibrosis (CF) is an autosomal recessive genetic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene which codes for a cyclic-AMP regulated chloride channel. Characteristic clinical features are recurrent pulmonary infections, exocrine pancreatic insufficiency and increased sweat electrolyte concentrations. CF was not clearly described in the medical literature until 1938. In this article the major discoveries and innovations that have been made since that time are reviewed and placed in historical context. They include the sweat test, comprehensive pulmonary and nutritional therapies, lung transplantation, discovery of the CFTR gene, and introduction of newborn screening. Therapies such as aerosolised mucolytic agents (dornase-a and hypertonic saline), aerosolised antibiotics (for example high-dose tobramycin and aztreonam) and CFTR modulator therapies such as ivacaftor have been developed in more recent years. These approaches have been associated with a significant increase in median life expectancy which reached 39.3 years in 2014.