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Genetic and phenotypic traits of children and adolescents with cystic fibrosis in Southern Brazil

OBJECTIVES: To characterize the main identified mutations on cystic fibrosis transmembrane conductance regulator (CFTR) in a group of children and adolescents at a cystic fibrosis center and its association with the clinical and laboratorial characteristics. METHOD: Descriptive cross-sectional study...

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Autores principales: da Rosa, Katiana Murieli, de Lima, Eliandra da Silveira, Machado, Camila Correia, Rispoli, Thaiane, Silveira, Victória d’Azevedo, Ongaratto, Renata, Comaru, Talitha, Pinto, Leonardo Araújo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Pneumologia e Tisiologia 2018
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6459751/
https://www.ncbi.nlm.nih.gov/pubmed/30726326
http://dx.doi.org/10.1590/s1806-37562017000000418
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author da Rosa, Katiana Murieli
de Lima, Eliandra da Silveira
Machado, Camila Correia
Rispoli, Thaiane
Silveira, Victória d’Azevedo
Ongaratto, Renata
Comaru, Talitha
Pinto, Leonardo Araújo
author_facet da Rosa, Katiana Murieli
de Lima, Eliandra da Silveira
Machado, Camila Correia
Rispoli, Thaiane
Silveira, Victória d’Azevedo
Ongaratto, Renata
Comaru, Talitha
Pinto, Leonardo Araújo
author_sort da Rosa, Katiana Murieli
collection PubMed
description OBJECTIVES: To characterize the main identified mutations on cystic fibrosis transmembrane conductance regulator (CFTR) in a group of children and adolescents at a cystic fibrosis center and its association with the clinical and laboratorial characteristics. METHOD: Descriptive cross-sectional study including patients with cystic fibrosis who had two alleles identified with CFTR mutation. Clinical, anthropometrical, laboratorial and pulmonary function (spirometry) data were collected from patients’ records in charts and described with the results of the sample genotyping. RESULTS: 42 patients with cystic fibrosis were included in the study. The most frequent mutation was F508del, covering 60 alleles (71.4%). The second most common mutation was G542X (six alleles, 7.1%), followed by N1303K and R1162X mutations (both with four alleles each). Three patients (7.14%) presented type III and IV mutations, and 22 patients (52.38%) presented homozygous mutation for F508del. Thirty three patients (78.6%) suffered of pancreatic insufficiency, 26.2% presented meconium ileus, and 16.7%, nutritional deficit. Of the patients in the study, 59.52% would be potential candidates for the use of CFTR-modulating drugs. CONCLUSIONS: The mutations of CFTR identified more frequently were F508del and G542X. These are type II and I mutations, respectively. Along with type III, they present a more severe cystic fibrosis phenotype. More than half of the sample (52.38%) presented homozygous mutation for F508del, that is, patients who could be treated with Lumacaftor/Ivacaftor. Approximately 7% of the patients (7.14%) presented type III and IV mutations, therefore becoming candidates for the treatment with Ivacaftor.
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spelling pubmed-64597512019-04-30 Genetic and phenotypic traits of children and adolescents with cystic fibrosis in Southern Brazil da Rosa, Katiana Murieli de Lima, Eliandra da Silveira Machado, Camila Correia Rispoli, Thaiane Silveira, Victória d’Azevedo Ongaratto, Renata Comaru, Talitha Pinto, Leonardo Araújo J Bras Pneumol Original Article OBJECTIVES: To characterize the main identified mutations on cystic fibrosis transmembrane conductance regulator (CFTR) in a group of children and adolescents at a cystic fibrosis center and its association with the clinical and laboratorial characteristics. METHOD: Descriptive cross-sectional study including patients with cystic fibrosis who had two alleles identified with CFTR mutation. Clinical, anthropometrical, laboratorial and pulmonary function (spirometry) data were collected from patients’ records in charts and described with the results of the sample genotyping. RESULTS: 42 patients with cystic fibrosis were included in the study. The most frequent mutation was F508del, covering 60 alleles (71.4%). The second most common mutation was G542X (six alleles, 7.1%), followed by N1303K and R1162X mutations (both with four alleles each). Three patients (7.14%) presented type III and IV mutations, and 22 patients (52.38%) presented homozygous mutation for F508del. Thirty three patients (78.6%) suffered of pancreatic insufficiency, 26.2% presented meconium ileus, and 16.7%, nutritional deficit. Of the patients in the study, 59.52% would be potential candidates for the use of CFTR-modulating drugs. CONCLUSIONS: The mutations of CFTR identified more frequently were F508del and G542X. These are type II and I mutations, respectively. Along with type III, they present a more severe cystic fibrosis phenotype. More than half of the sample (52.38%) presented homozygous mutation for F508del, that is, patients who could be treated with Lumacaftor/Ivacaftor. Approximately 7% of the patients (7.14%) presented type III and IV mutations, therefore becoming candidates for the treatment with Ivacaftor. Sociedade Brasileira de Pneumologia e Tisiologia 2018 /pmc/articles/PMC6459751/ /pubmed/30726326 http://dx.doi.org/10.1590/s1806-37562017000000418 Text en © 2018 Sociedade Brasileira de Pneumologia e Tisiologia https://creativecommons.org/licenses/by-nc/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License
spellingShingle Original Article
da Rosa, Katiana Murieli
de Lima, Eliandra da Silveira
Machado, Camila Correia
Rispoli, Thaiane
Silveira, Victória d’Azevedo
Ongaratto, Renata
Comaru, Talitha
Pinto, Leonardo Araújo
Genetic and phenotypic traits of children and adolescents with cystic fibrosis in Southern Brazil
title Genetic and phenotypic traits of children and adolescents with cystic fibrosis in Southern Brazil
title_full Genetic and phenotypic traits of children and adolescents with cystic fibrosis in Southern Brazil
title_fullStr Genetic and phenotypic traits of children and adolescents with cystic fibrosis in Southern Brazil
title_full_unstemmed Genetic and phenotypic traits of children and adolescents with cystic fibrosis in Southern Brazil
title_short Genetic and phenotypic traits of children and adolescents with cystic fibrosis in Southern Brazil
title_sort genetic and phenotypic traits of children and adolescents with cystic fibrosis in southern brazil
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6459751/
https://www.ncbi.nlm.nih.gov/pubmed/30726326
http://dx.doi.org/10.1590/s1806-37562017000000418
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