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01-12-2020 | Cystic Fibrosis | Research article

Clinical, genetic and microbiological characterization of pediatric patients with cystic fibrosis in a public Hospital in Ecuador

Authors: Yazmina Lascano-Vaca, Esteban Ortiz-Prado, Lenin Gomez-Barreno, Katherine Simbaña-Rivera, Eduardo Vasconez, Alexander Lister, María Emilia Arteaga-Espinosa, Geovanny F. Perez

Published in: BMC Pediatrics | Issue 1/2020

Abstract

Background

To 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.

Methods

A 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.

Results

Forty 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 < 0.05). The most common pathogenic genetic variants 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. 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.

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Title: Clinical, genetic and microbiological characterization of pediatric patients with cystic fibrosis in a public Hospital in Ecuador
Authors: Yazmina Lascano-Vaca
Esteban Ortiz-Prado
Lenin Gomez-Barreno
Katherine Simbaña-Rivera
Eduardo Vasconez
Alexander Lister
María Emilia Arteaga-Espinosa
Geovanny F. Perez
Publication date: 01-12-2020
Publisher: BioMed Central
Keywords: Cystic Fibrosis
Cystic Fibrosis
Published in: BMC Pediatrics / Issue 1/2020
Electronic ISSN: 1471-2431
DOI: https://doi.org/10.1186/s12887-020-2013-6

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Clinical, genetic and microbiological characterization of pediatric patients with cystic fibrosis in a public Hospital in Ecuador

Abstract

Background

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

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