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BackgroundTo carry out a complete clinical, pathological, genetic and microbiological characterization of pediatric patients with molecular confirmed cystic fibrosis (CF) attending the Carlos Andrade Marín Hospital (HCAM) within the study period.MethodsA cross-sectional analysis of the pediatric population with a confirmed diagnosis of CF disease who attended HCAM, one of the largest tertiary-level hospitals in Ecuador, between 2017 and 2018 was performed. All demographic, clinical and genetic variables were obtained from the electronic medical records (EMR) stored by the hospital.ResultsForty seven patients with CF were included in the study. 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 nine months post-diagnosis (85.55 ± 13.26;p n = 19); H609R, found in 36.11% (n = 13); g.204099A > C, found in 14.1% (n = 7), followed by G85E and the N1303K with 11.11% (n = 3) each.ConclusionsTo our best knowledge, this is the first study exploring the clinical, genetic and bacteriological profile of CF’s patients in Ecuador. Within the cohort of patients, an important and unique genetic feature was characterized by the presence of the g.204099A > C and the c.206359C > A homozygous polymorphism as well as the presence of the H609R variant, a mutation only reported among Ecuadorians.

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 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.