Clinical, genetical and microbiological characterization of pediatric patients with Cystic Fibrosis in Ecuador

Abstract

Summary Objective To characterize the epidemiology and the clinical, pathological, microbiological and genetical profile of children with cystic fibrosis treated in Ecuador. Methods We conducted a cross-sectional analysis of the pediatric population with a confirmed diagnosis of cystic fibrosis (CF) attending to one of the biggest III-level hospitals in Ecuador. All demographic, clinical and genetical variables were obtained from the electronic medical records (EMR) from 2017-2018. Results 47 patients with CF were observed and followed for more than a year. Gender distribution was similar between male (48.9%, n = 23) and female patients (51.1%, n = 24). The Tiffeneau-Pinelli index (FEV1/FVC) changed significantly after 9 months post-diagnosis (85.55 ± 13.26; p <0.05). The most common pathogenic genetical mutation was F508del, found in 52.78% of the cohort (n = 19); H609R, found in 36.11% (n = 13) and the G85E and the N1303K with 11.11% respectively (n = 3). Finally, there were 14.1% (n = 7) of patients with a mutation g.204099A> C, which has only been reported among Ecuadorians. Conclusions This is the first study carried out in Ecuador exploring the clinical, genetical and bacteriological analysis of patients with CF. Children with CF are often colonized by four species of gram-positive bacteria (S. aureus, Coagulase-Negative Staphylococcus, Streptococcus pneumoniae and M. catarrhalis) were the most predominant this condition atients were hospitalized for complications related to cystic fibrosis, with an average of 19 days of stay.