Moduladores de la proteína reguladora de la conductancia transmembrana de la fibrosis quística (cftr) de triple combinación: Revisión bibliográfica

Abstract

Introduction:Cystic fibrosis is an autosomal recessive genetic disease that affects the function of the CFTR channel. The most common mutation is F508del, found in approximately 90% of patients. CFTR modulators have significantly improved treatment by increasing respiratory function and reducing exacerbations, which impacts survival and quality of life. Materials and Methods:A qualitative systematic review was conducted by searching scientific databases for articles on triple combination CFTR modulators. Relevant studies published in the last 5 years in English and Spanish were included. The selected articles provided information on the efficacy, safety, and adverse effects of the treatments. Results:Cystic fibrosis is caused by mutations in the CFTR gene, primarily affecting the lungs and digestive system. Triple combination modulators such as elexacaftor, tezacaftor, and ivacaftor have shown improvements in lung function and quality of life, especially in patients with common mutations like F508del. Studies also highlight the variability in treatment response, particularly among subgroups of patients with less common mutations. Conclusions:Triple therapy with elexacaftor-tezacaftor-ivacaftor has proven effective in improving lung function and quality of life in patients with cystic fibrosis, especially those with the F508del mutation. The treatment’s safety profile is acceptable, although variations in response among different patient subgroups must be considered.