Clinical, genetic and microbiological characterization of pediatric patients with Cystic Fibrosis in a Public Hospital in Ecuador

Abstract

Objective: To carry out a complete clinical, pathological, genetic and microbiological characterization of pediatric patients with molecular confirmed CF attending the Carlos Andrade Marín Hospital within the study period. Methods: A cross-sectional analysis of the pediatric population with a confirmed diagnosis of cystic fibrosis (CF) disease, who attended one of the largest tertiary-level hospitals in Ecuador between 2017 and 2018 was conducted. All demographic, clinical and genetic variables were obtained from the electronic medical records (EMR) stored by the hospital. Results: 47 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 <0.05). The most common pathogenic genetic mutations were F508del, found in 52.78% of the cohort (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. Conclusions: To our best knowledge, this is the first study exploring the clinical, genetic and bacteriological profile of CF’s patients in Ecuador. Due to the lack of universal screening in the country, a large proportion of individuals are being diagnosed or misdiagnosed later than expected, jeopardizing their treatments and prognosis. It is relevant to establish that the presence of the g.204099A> C and the c.206359C>A homozygous mutation variants have only been reported among Ecuadorians. These patients appear to show a less severe CF disease and a better prognosis.