Introduction and Epidemiology of Cystic Fibrosis

Abstract

Cystic fibrosis (CF) is an autosomal recessive condition caused by mutations in the gene encoding the CF transmembrane conductance regulator (CFTR) protein [1]. CFTR plays a central role in the regulation of ion transport across the cell membrane. CF affects multiple organ systems, although, gastrointestinal and pulmonary complications are responsible for the vast majority of morbidity and mortality associated with this disease. When CF was initially described in the 1930s, patients rarely survived beyond infancy or early childhood [2]. Since then advances in care have resulted in marked improvements in survival. The development of patient registries and quality improvement initiatives has led to more consistent care; the results of which can be tracked on a regular basis. Today, half of all patients with CF in the US are adults, and estimated median survival is >40 years [3]. The future of CF care has become even brighter with the development of CFTR modulators; medications that can target the underlying defect causing CF. Currently available CFTR modulators target only a small proportion of patients with CF or lack potency, although, newer more effective compounds are under development. At the same time, there are large numbers of patients with CF that will continue to require close monitoring and treatment of ongoing CF issues. Advances in understanding the genetics of CF and the spread of CF newborn screening have also affected how patients with CF are diagnosed. For all of these reasons, this handbook is very timely and will be a valuable resource for clinicians caring for patients with CF. In this handbook we will review the genetics and diagnosis of CF, the clinical manifestations and pathophysiology of CF, and monitoring and treatment of the disease.