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Genetic and phenotypic traits of children and adolescents with cystic fibrosis in Southern Brazil.
Rosa, Katiana Murieli da; Lima, Eliandra da Silveira de; Machado, Camila Correia; Rispoli, Thaiane; Silveira, Victória d'Azevedo; Ongaratto, Renata; Comaru, Talitha; Pinto, Leonardo Araújo.
Afiliação
  • Rosa KMD; . Pediatric Residency Program, Pontifícia Universidade Católica do Rio Grande do Sul, Porto Alegre (RS) Brazil.
  • Lima EDS; . Post-Graduate Degree in Pediatrics and Children's Health, Pontifícia Universidade Católica do Rio Grande do Sul, Porto Alegre (RS) Brazil.
  • Machado CC; . Medical School , Pontifícia Universidade Católica do Rio Grande do Sul, Porto Alegre (RS) Brazil.
  • Rispoli T; . Post-Graduate Degree in Cell and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre (RS) Brazil.
  • Silveira VD; . Medical School , Pontifícia Universidade Católica do Rio Grande do Sul, Porto Alegre (RS) Brazil.
  • Ongaratto R; . Post-Graduate Degree in Pediatrics and Children's Health, Pontifícia Universidade Católica do Rio Grande do Sul, Porto Alegre (RS) Brazil.
  • Comaru T; . Post-Graduate Degree in Pediatrics and Children's Health, Pontifícia Universidade Católica do Rio Grande do Sul, Porto Alegre (RS) Brazil.
  • Pinto LA; . Centro Infantil, Instituto de Pesquisas Biomédicas, Pontifícia Universidade Católica do Rio Grande do Sul, Porto Alegre (RS) Brazil.
J Bras Pneumol ; 44(6): 498-504, 2018.
Article em En, Pt | MEDLINE | ID: mdl-30726326
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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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Regulador de Condutância Transmembrana em Fibrose Cística / Fibrose Cística / Mutação Tipo de estudo: Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Female / Humans / Male País/Região como assunto: America do sul / Brasil Idioma: En / Pt Revista: J Bras Pneumol Ano de publicação: 2018 Tipo de documento: Article País de publicação: Brasil
Texto completo
Adicionar na Minha BVS
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XML
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Regulador de Condutância Transmembrana em Fibrose Cística / Fibrose Cística / Mutação Tipo de estudo: Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Female / Humans / Male País/Região como assunto: America do sul / Brasil Idioma: En / Pt Revista: J Bras Pneumol Ano de publicação: 2018 Tipo de documento: Article País de publicação: Brasil