The Pharmacological Management of Cystic Fibrosis

Abstract

Cystic fibrosis is a progressive inherited disease caused by CFTR dysfunction, resulting in impaired epithelial ion transport, dehydrated secretions, chronic airway infection, and multisystem involvement. This thesis examines the evolution of pharmacological management following the discovery of the CFTR gene. Traditional treatments, including mucolytics, antibiotics, pancreatic enzyme replacement, and anti-inflammatory agents, have been complemented by CFTR modulators that target the underlying molecular defect. These therapies, potentiators, correctors, and combination regimens, have significantly improved lung function, reduced exacerbations, and enhanced quality of life in eligible patients. However, challenges remain, such as mutation-specific efficacy, variable treatment response, drug interactions, and limited options for patients lacking CFTR protein expression. Emerging strategies, including gene and mRNA therapies, aim to further expand treatment possibilities and advance precision medicine in cystic fibrosis care.