Variantes genéticas en pacientes con fibrosis quística : su impacto en la evolución clínica y en el uso de servicios hospitalarios en pacientes atendidos en el Hospital Roberto Gilbert Elizalde del 1 de enero del 2014 al 30 de junio del 2024.

Abstract

Introduction: Cystic fibrosis (CF) is an autosomal recessive entity preponderant in the Caucasian race, caused by mutations in the gene that encodes the CFTR protein. Objective: To determine the impact of the different genetic variants on the clinical course and the use of hospital services. Methods: An observational, retrospective, descriptive, cross-sectional study was carried out in patients between 1 month and 17 years 11 months of age, treated at the Roberto Gilbert Elizalde Hospital from January 1, 2014 to June 30, 2024. Results: There were 33 patients with a genetic study performed, mostly male, with a median of 4 hospital admissions per patient and an average total hospital stay of 15.75 days. The most common mutation was F508del, associated with different degrees of severity in lung involvement, 65% of cases in heterozygous state, with report of 3 previously undocumented variants. The assessment of nutritional status did not show significant differences between the initial and final measurements. The Tiffeneau index showed a statistically significant difference during the study period. The predominant respiratory pattern was restrictive, associated with severe and moderate involvement. Conclusions: The severity, prognosis and quality of life of these patients is supported by both the compromise of their lung function and their nutritional status. There are new variants specific to the Ecuadorian population.