A Review of Treatments That Improve Cystic Fibrosis Transmembrane Conductance Regulator Function

摘要

Cystic fibrosis (CF) is a common life-limiting genetic condition caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The CFTR protein is present in many epithelial cells in the body, and CF is characterised by suppurative lung disease, exocrine pancreatic insufficiency, and elevated sweat chloride. Traditionally, treatment of CF has involved managing the complications of defective CFTR function, such as airway clearance techniques for impaired lung mucociliary clearance and pancreatic enzyme replacement for pancreatic insufficiency. More recently, treatments have been developed which improve CFTR function. The aim of this article is to summarise the evidence surrounding treatments that improve CFTR function and their implications for clinical practice.