Moduladores CFTR como terapia de primera línea para el manejo de fibrosis quística

Abstract

Cystic fibrosis (CF) is characterized as a genetic disease affecting multiple systems, with autosomal recessive inheritance, caused by a mutation in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein, leading to the accumulation of thick mucus in various exocrine glands. It affects multiple systems, with pulmonary involvement being the most severe. CFTR mutations are classified into six types based on their impact on the protein. The incidence of CF varies among ethnic populations, being more common in Caucasians. Symptoms include respiratory, gastrointestinal, liver, reproductive, and bone complications. Diagnosis relies on tests such as the sweat test, genetic studies, and newborn screening. Traditional therapy focuses on managing symptoms and complications, while CFTR modulators, such as ivacaftor and lumacaftor, have transformed treatment by improving CFTR function. These modulators have demonstrated improvements in quality of life and significantly extended the lifespan of CF patients. However, treatment response may vary according to the individual and disease severity. In conclusion, the literature review highlights the importance of CFTR modulators in CF treatment, showing a significant change in therapy and increasing life expectancy while improving the quality of life of patients. The main lesson learned is that advancements in treatment have yielded excellent results in this complex disease.