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A comprehensive overview of the cystic fibrosis on the island of São Miguel (Azores, Portugal)

2020-01-03Journal article Open access
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dc.contributor.authorRosa, Joana
dc.contributor.authorGaspar-Silva, Patrícia
dc.contributor.authorPacheco, Paula
dc.contributor.authorSilva, Conceição
dc.contributor.authorBranco, Cláudia C.
dc.contributor.authorVieira, Barbara S.
dc.contributor.authorCarreiro, Alexandra
dc.contributor.authorGonçalves, Juan
dc.contributor.authorMota-Vieira, Luisa
dc.date.accessioned2021-04-07T17:47:17Z
dc.date.available2021-04-07T17:47:17Z
dc.date.issued2020-01-03
dc.description.abstractBackground: 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.pt_PT
dc.description.sponsorshipThis 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.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationBMC Pediatr. 2020 Jan 3;20(1):2. doi: 10.1186/s12887-019-1903-y.pt_PT
dc.identifier.doi10.1186/s12887-019-1903-ypt_PT
dc.identifier.issn1471-2431
dc.identifier.urihttp://hdl.handle.net/10400.18/7663
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherBMCpt_PT
dc.relation.publisherversionhttps://bmcpediatr.biomedcentral.com/articles/10.1186/s12887-019-1903-ypt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectCystic Fibrosispt_PT
dc.subjectCystic Fibrosis Transmembrane Conductance Regulatorpt_PT
dc.subjectGenotype-phenotype Analysispt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleA comprehensive overview of the cystic fibrosis on the island of São Miguel (Azores, Portugal)pt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/5876/UID%2FMulti%2F04046%2F2013/PT
oaire.citation.issue1pt_PT
oaire.citation.startPage2pt_PT
oaire.citation.titleBMC Pediatricspt_PT
oaire.citation.volume20pt_PT
oaire.fundingStream5876
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.embargofctAcesso de acordo com política editorial da revista.pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isProjectOfPublicationdc84f768-e6f2-4eea-b294-6c8ebbd1a156
relation.isProjectOfPublication.latestForDiscoverydc84f768-e6f2-4eea-b294-6c8ebbd1a156

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