A comprehensive overview of the cystic fibrosis on the island of São Miguel (Azores, Portugal)
Autor(a) principal: | |
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Data de Publicação: | 2020 |
Outros Autores: | , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.18/7663 |
Resumo: | 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. |
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A comprehensive overview of the cystic fibrosis on the island of São Miguel (Azores, Portugal)Cystic FibrosisCystic Fibrosis Transmembrane Conductance RegulatorGenotype-phenotype AnalysisDoenças GenéticasBackground: 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.This work was supported, in part, by grants from the Direção Regional da Ciência e Tecnologia (M121/I/OLD/2002, from the Azores Government) and BioISI (Centre Reference: UID/MULTI/04046/2013) from FCT/MCTES/PIDDAC, Portugal.BMCRepositório Científico do Instituto Nacional de SaúdeRosa, JoanaGaspar-Silva, PatríciaPacheco, PaulaSilva, ConceiçãoBranco, Cláudia C.Vieira, Barbara S.Carreiro, AlexandraGonçalves, JuanMota-Vieira, Luisa2021-04-07T17:47:17Z2020-01-032020-01-03T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/7663engBMC Pediatr. 2020 Jan 3;20(1):2. doi: 10.1186/s12887-019-1903-y.1471-243110.1186/s12887-019-1903-yinfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-20T15:42:08Zoai:repositorio.insa.pt:10400.18/7663Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:42:18.512221Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
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) |
spellingShingle |
A comprehensive overview of the cystic fibrosis on the island of São Miguel (Azores, Portugal) Rosa, Joana Cystic Fibrosis Cystic Fibrosis Transmembrane Conductance Regulator Genotype-phenotype Analysis Doenças Genéticas |
title_short |
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_sort |
A comprehensive overview of the cystic fibrosis on the island of São Miguel (Azores, Portugal) |
author |
Rosa, Joana |
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_role |
author |
author2 |
Gaspar-Silva, Patrícia Pacheco, Paula Silva, Conceição Branco, Cláudia C. Vieira, Barbara S. Carreiro, Alexandra Gonçalves, Juan Mota-Vieira, Luisa |
author2_role |
author author author author author author author author |
dc.contributor.none.fl_str_mv |
Repositório Científico do Instituto Nacional de Saúde |
dc.contributor.author.fl_str_mv |
Rosa, Joana Gaspar-Silva, Patrícia Pacheco, Paula Silva, Conceição Branco, Cláudia C. Vieira, Barbara S. Carreiro, Alexandra Gonçalves, Juan Mota-Vieira, Luisa |
dc.subject.por.fl_str_mv |
Cystic Fibrosis Cystic Fibrosis Transmembrane Conductance Regulator Genotype-phenotype Analysis Doenças Genéticas |
topic |
Cystic Fibrosis Cystic Fibrosis Transmembrane Conductance Regulator Genotype-phenotype Analysis Doenças Genéticas |
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. |
publishDate |
2020 |
dc.date.none.fl_str_mv |
2020-01-03 2020-01-03T00:00:00Z 2021-04-07T17:47:17Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10400.18/7663 |
url |
http://hdl.handle.net/10400.18/7663 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
BMC Pediatr. 2020 Jan 3;20(1):2. doi: 10.1186/s12887-019-1903-y. 1471-2431 10.1186/s12887-019-1903-y |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
BMC |
publisher.none.fl_str_mv |
BMC |
dc.source.none.fl_str_mv |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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