A Comprehensive Review of Cystic Fibrosis: Mechanisms, Clinical Features, and Treatment

A life-limiting autosomal recessive condition called cystic fibrosis (CF) is brought on by mutations in the CFTR gene, which impair ion transport between epithelial cells. Thick, viscous mucus from this malfunction affects several organ systems, especially the gastrointestinal and respiratory systems. The most prevalent mutation, ΔF508, increases the severity of the condition by interfering with the folding and function of the CFTR protein. Impaired chloride secretion, increased sodium reabsorption, and dryness of airway surfaces are all part of the pathophysiology of cystic fibrosis (CF), which encourages mucus buildup, persistent infection, and inflammation. Persistent respiratory infections, bronchiectasis, pancreatic insufficiency, malabsorption, and growth failure are the clinical manifestations of cystic fibrosis. Pseudomonas aeruginosa and other opportunistic bacteria are important in the development of illness. Diagnosis relies on sweat chloride testing, newborn screening, and genetic analysis for CFTR mutations. Despite the lack of a cure, improvements in treatment, such as CFTR modulators, antimicrobial therapy, and airway clearance methods, have greatly enhanced patient outcomes and quality of life. Early diagnosis and comprehensive treatment have significantly improved the quality of life and survival of patients with CF. In order to address the fundamental flaw and enhance long-term results, ongoing research is investigating new therapy strategies.