Open AccessPediatric population with cystic fibrosis in the centre of Portugal: candidates for new therapies
Author(s) -
Juliana Roda,
Teresa Teixeira,
Iris Ai Silva,
Teresa Reis Silva,
Ricardo Ferreira,
Margarida D. Amaral,
Guiomar Oliveira
Publication year - 2022
Publication title -
jornal de pediatria
Language(s) - English
Resource type - Journals
eISSN - 1678-4782
pISSN - 0021-7557
DOI - 10.1016/j.jped.2021.05.010
Subject(s) - ivacaftor , medicine , cystic fibrosis , cystic fibrosis transmembrane conductance regulator , mutation , newborn screening , population , cohort , allele , phenotype , bioinformatics , gastroenterology , pediatrics , genetics , gene , biology , environmental health
Cystic fibrosis (CF) is a severe autosomal recessive disease that results from mutations in a gene encoding the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein, a chloride channel. This study aims to characterize the clinical and genetic features of a cohort of pediatric people with CF (PwCF) in the center of Portugal and to determine which ones are candidates for the new drugs modulating the CFTR channel.