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A comprehensive overview of the cystic fibrosis on the island of São Miguel (Azores, Portugal)
BACKGROUND: Early diagnosis and treatment are improving significantly the quality of life of patients with cystic fibrosis (CF). This recessive disease is caused by a great variability of mutations in the CF transmembrane conductance (CFTR) gene, whose spectrum and frequency can be different across...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6942372/ https://www.ncbi.nlm.nih.gov/pubmed/31900120 http://dx.doi.org/10.1186/s12887-019-1903-y |
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author | Rosa, Joana Gaspar-Silva, Patrícia Pacheco, Paula Silva, Conceição Branco, Cláudia C. Vieira, Barbara S. Carreiro, Alexandra Gonçalves, Juan Mota-Vieira, Luisa |
author_facet | Rosa, Joana Gaspar-Silva, Patrícia Pacheco, Paula Silva, Conceição Branco, Cláudia C. Vieira, Barbara S. Carreiro, Alexandra Gonçalves, Juan Mota-Vieira, Luisa |
author_sort | Rosa, Joana |
collection | PubMed |
description | BACKGROUND: Early diagnosis and treatment are improving significantly the quality of life of patients with cystic fibrosis (CF). This recessive disease is caused by a great variability of mutations in the CF transmembrane conductance (CFTR) gene, whose spectrum and frequency can be different across populations. METHODS: We performed a retrospective cross-sectional study of CF patients from the island of São Miguel (Azores, Portugal) through a clinical, genealogical, genetic and epidemiological investigation. The clinical course of patients was analyzed as a whole and according to their genotype. RESULTS: We identified 14 CF patients within a 23-year period, corresponding to a cumulative incidence of 1:3012 births, being three of them born from consanguineous unions. Genetic analysis revealed three CFTR genotypes: p.[Ser4Ter];[Gln1100Pro] was present in one patient with a less severe phenotype (1/14); c.[120del23];p.[Phe508del], a very rare one (2/14); and p.[Phe508del];[Phe508del] in the remaining patients (11/14). Clinically, respiratory infections (8/14) and growth failure (6/14) were the most common initial manifestations. All patients presented pancreatic dysfunction, with 21.4 and 100% of them showing endocrine and exocrine insufficiency, respectively. As expected, patients with severe phenotype were homozygous for p.Phe508del and had the lowest value of body mass index. CONCLUSIONS: The present study demonstrated that São Miguel Island has an increased incidence of CF when compared to recent Portuguese data (1:7500 live births). It also allowed a comprehensive overview of CF in São Miguel, improving medical practice along with genetic counselling and creating opportunities for genotype-targeted therapies. |
format | Online Article Text |
id | pubmed-6942372 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-69423722020-01-07 A comprehensive overview of the cystic fibrosis on the island of São Miguel (Azores, Portugal) Rosa, Joana Gaspar-Silva, Patrícia Pacheco, Paula Silva, Conceição Branco, Cláudia C. Vieira, Barbara S. Carreiro, Alexandra Gonçalves, Juan Mota-Vieira, Luisa BMC Pediatr Research Article BACKGROUND: Early diagnosis and treatment are improving significantly the quality of life of patients with cystic fibrosis (CF). This recessive disease is caused by a great variability of mutations in the CF transmembrane conductance (CFTR) gene, whose spectrum and frequency can be different across populations. METHODS: We performed a retrospective cross-sectional study of CF patients from the island of São Miguel (Azores, Portugal) through a clinical, genealogical, genetic and epidemiological investigation. The clinical course of patients was analyzed as a whole and according to their genotype. RESULTS: We identified 14 CF patients within a 23-year period, corresponding to a cumulative incidence of 1:3012 births, being three of them born from consanguineous unions. Genetic analysis revealed three CFTR genotypes: p.[Ser4Ter];[Gln1100Pro] was present in one patient with a less severe phenotype (1/14); c.[120del23];p.[Phe508del], a very rare one (2/14); and p.[Phe508del];[Phe508del] in the remaining patients (11/14). Clinically, respiratory infections (8/14) and growth failure (6/14) were the most common initial manifestations. All patients presented pancreatic dysfunction, with 21.4 and 100% of them showing endocrine and exocrine insufficiency, respectively. As expected, patients with severe phenotype were homozygous for p.Phe508del and had the lowest value of body mass index. CONCLUSIONS: The present study demonstrated that São Miguel Island has an increased incidence of CF when compared to recent Portuguese data (1:7500 live births). It also allowed a comprehensive overview of CF in São Miguel, improving medical practice along with genetic counselling and creating opportunities for genotype-targeted therapies. BioMed Central 2020-01-03 /pmc/articles/PMC6942372/ /pubmed/31900120 http://dx.doi.org/10.1186/s12887-019-1903-y Text en © The Author(s). 2020 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Research Article Rosa, Joana Gaspar-Silva, Patrícia Pacheco, Paula Silva, Conceição Branco, Cláudia C. Vieira, Barbara S. Carreiro, Alexandra Gonçalves, Juan Mota-Vieira, Luisa A comprehensive overview of the cystic fibrosis on the island of São Miguel (Azores, Portugal) |
title | A comprehensive overview of the cystic fibrosis on the island of São Miguel (Azores, Portugal) |
title_full | A comprehensive overview of the cystic fibrosis on the island of São Miguel (Azores, Portugal) |
title_fullStr | A comprehensive overview of the cystic fibrosis on the island of São Miguel (Azores, Portugal) |
title_full_unstemmed | A comprehensive overview of the cystic fibrosis on the island of São Miguel (Azores, Portugal) |
title_short | A comprehensive overview of the cystic fibrosis on the island of São Miguel (Azores, Portugal) |
title_sort | comprehensive overview of the cystic fibrosis on the island of são miguel (azores, portugal) |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6942372/ https://www.ncbi.nlm.nih.gov/pubmed/31900120 http://dx.doi.org/10.1186/s12887-019-1903-y |
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