Actualización en el diagnóstico y tratamiento de la Fibrosis Quística. Revision sistemática

Abstract

Introduction: Cystic fibrosis is a multisystem disorder characterized by mutation of the CFTR gene and is increasingly recognized worldwide, not only in North America, Europe, and Australia but also in South and East Asia, Africa, and Latin America, although the known prevalence in these regions is lower, it has an impact, especially in newborns for whom neonatal screening has been standardized being the starting point for the consequent diagnosis of this disease with which can opt for optimal treatment. Objective: To analyze current diagnostic and treatment strategies for cystic fibrosis through a systematic review. Methods: The systematic review is descriptive, analytical, and qualitative, conducted by analyzing various scientific studies on the diagnosis and treatment of cystic fibrosis. Keyword searches were performed using DeCs, MeSH, and the Boolean connections AND and OR. Results: In the diagnosis, the chloride sweat test and neonatal screening remain the gold standard. Regarding treatment, several studies show the efficacy of CFTR modulators and biological therapies, although the results of long-term studies are still awaited. Keywords: Cystic fibrosis, cystic fibrosis transmembrane conductance regulator neonatal screening