Caracterización clínica de pacientes pediátricos con diagnóstico de fibrosis quística atendidos en el Hospital de Niños “Dr. Roberto Gilbert Elizalde” de 2014 a 2022.

Abstract

Introduction: Cystic fibrosis (CF) is a hereditary disease, autosomal recessive, chronic and multisystemic, secondary to the presence of pathogenic changes in the gene that codes for the protein known as Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). Objective: To describe the clinical characteristics of pediatric patients diagnosed with cystic fibrosis treated at the "Dr. Roberto Gilbert Elizalde" Children's Hospital from January 2014 to December 2022. Methodology: Observational and retrospective study. Patients from 0 days to 17 years with a confirmed diagnosis were included. Patients without follow-up consultations by pediatric pulmonology and incomplete medical records were excluded. Results: 84 patients diagnosed with cystic fibrosis. The average age of onset was 5 months. The most common place of residence was the city of Guayaquil. The main cause of hospitalization was pneumonia. The sweat test was the most frequent diagnostic method. Pulmonary function assessment by spirometry showed that 23.8% had normal lung function, 20.2% mild ventilatory incapacity, 10.7% moderate ventilatory incapacity, and 7.10% severe ventilatory incapacity. Regarding complications, 65.4% had respiratory complications and 73.8% digestive complications. 58.3% of patients had malnutrition. Mortality was 9.5% (n=8). Conclusion: Cystic fibrosis was found in 0.08% of the population treated in this hospital. The clinical manifestations correspond to the classic mode of presentation of the disease.