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

Yazmina Lascano-VacaEsteban Ortiz PradoLenin Gomez-BarrenoKatherine Simbaña-RiveraEduardo VasconezAlexander ListerMaría Emilia Arteaga-EspinosaGeovanny F Perez

Published in: BMC pediatrics (2020)

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.

Keyphrases

end stage renal disease
healthcare
ejection fraction
chronic kidney disease
newly diagnosed
mental health
peritoneal dialysis
cystic fibrosis
gene expression
copy number
patient reported
adverse drug