Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/201176
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dc.contributor.CRUESPUNIVERSIDADE ESTADUAL DE CAMPINASpt_BR
dc.contributor.authorunicampBonadia, Luciana Cardosopt_BR
dc.contributor.authorunicampMarson, Fernando Augusto de Limapt_BR
dc.contributor.authorunicampRibeiro, José Dirceupt_BR
dc.contributor.authorunicampPaschoal, Ilma Aparecidapt_BR
dc.contributor.authorunicampPereira, Monica Corsopt_BR
dc.contributor.authorunicampRibeiro, Antonio Fernandopt_BR
dc.contributor.authorunicampBertuzzo, Carmen Sílviapt_BR
dc.typeArtigopt_BR
dc.titleCFTR genotype and clinical outcomes of adult patients carried as cystic fibrosis diseasept_BR
dc.contributor.authorBonadia, Luciana Cardosopt_BR
dc.contributor.authorLima Marson, Fernando Augusto dept_BR
dc.contributor.authorRibeiro, Jose Dirceupt_BR
dc.contributor.authorPaschoal, Ilma Aparecidapt_BR
dc.contributor.authorPereira, Monica Corsopt_BR
dc.contributor.authorRibeiro, Antonio Fernandopt_BR
dc.contributor.authorBertuzzo, Carmen Silviapt_BR
unicamp.authorLuciana Cardoso Bonadia, Department of Genetics, Faculty of Medical Sciences, University of Campinas, Unicamp, P.O. Box: 6111, 13081-970 Campinas, SP, Brazil. Electronic address: luciana.bonadia@gmail.com.pt_BR
unicamp.authorFernando Augusto de Lima Marson, Department of Genetics, Faculty of Medical Sciences, University of Campinas, Unicamp, P.O. Box: 6111, 13081-970 Campinas, SP, Brazilpt_BR
unicamp.authorDepartment of Pediatrics, School of Medical Sciences, University of Campinas, Unicamp, P.O. Box: 6111, 13081-970 Campinas, SP, Brazil. Electronic address: fernandolimamarson@hotmail.com.pt_BR
unicamp.authorJose Dirceu Ribeiro, Department of Pediatrics, School of Medical Sciences, University of Campinas, Unicamp, P.O. Box: 6111, 13081-970 Campinas, SP, Brazil. Electronic address: dirceu.unicamp@gmail.com.pt_BR
unicamp.authorIlma Aparecida Paschoal, Department of Pneumology, Faculty of Medical Sciences, University of Campinas, Unicamp, P.O. Box: 6111, 13081-970 Campinas, SP, Brazil. Electronic address: ilma@mpc.com.br.pt_BR
unicamp.authorMonica Corso Pereira, Department of Pneumology, Faculty of Medical Sciences, University of Campinas, Unicamp, P.O. Box: 6111, 13081-970 Campinas, SP, Brazil. Electronic address: corso@mpcnet.com.br.pt_BR
unicamp.authorAntonio Fernando Ribeiro, Department of Pediatrics, School of Medical Sciences, University of Campinas, Unicamp, P.O. Box: 6111, 13081-970 Campinas, SP, Brazil. Electronic address: anferi@fcm.unicamp.br.pt_BR
unicamp.authorCarmen Silvia Bertuzzo, Department of Genetics, Faculty of Medical Sciences, University of Campinas, Unicamp, P.O. Box: 6111, 13081-970 Campinas, SP, Brazil. Electronic address: bertuzzo@fcm.unicamp.br.pt_BR
dc.subjectFibrose císticapt_BR
dc.subjectMutaçãopt_BR
dc.subject.otherlanguageCystic fibrosispt_BR
dc.subject.otherlanguageMutationpt_BR
dc.description.abstractThere are nearly 2000 cystic fibrosis transmembrane regulator (CFTR) mutations that cause cystic fibrosis (CF). These mutations are classified into six classes; on the one hand, the first three classes cause severe disease involvement in early childhood, on the other hand, the Class IV, V and VI mutations cause minor severe disease in the same age. Nowadays, with therapeutic advances in CF management and competence of pediatricians, physicians of adults have to deal with two groups of CF patients: (i) adults diagnosed in childhood with severe mutations and (ii) adults who initiated symptoms in adulthood and with Class IV, V and VI mutations. The aim of this study was to analyze adults from a clinical center, treated as CF disease, screening the CFTR genotype and evaluating the clinical characteristics. Thirty patients followed as CF disease at the University Hospital were enrolled. After a complete molecular CFTR negative screening and sweat test levels between 40 and 59mEq/L, five patients were characterized as non-CF disease and were excluded. Molecular screening was performed by CFTR gene sequencing/MLPA or by specific mutation screening. Clinical data was obtained from medical records. The patients were divided into three groups: (1) patients with Class I, II and III mutations in two CFTR alleles; (2) genotype with at least one allele of Class IV, V or VI CFTR mutations and, (3) non-identified CFTR mutation+one patient with one allele with CFTR mutation screened (Class I). There was an association of CFTR class mutation and sodium/chloride concentration in the sweat test (sodium: p=0.040; chloride: p=0.016), onset of digestive symptoms (p=0.012), lung function parameter (SpO2 - p=0.016), Bhalla score (p=0.021), age at diagnosis (p=0.008) and CF-related diabetes (p=0.029). There was an association between Pseudomonas aeruginosa chronic colonization (as clinical marker for the lung disease status) and lung impairment (FEV1% - p=0.027; Bhalla score - p=0.021), CF-related diabetes (p=0.040), chloride concentration in the sweat test (p=0.040) and chronic infection by microorganisms (Staphylococcus aureus - p=0.039; mucoid P. aeruginosa - p=0.001). There is no positive association with the status of other clinical markers and the CFTR genotype groups. For clinical association with pancreatic insufficiency (as clinical marker for digestive symptoms), no association was related. The adults with CF diagnosed by sweat test have specific clinical and genotypic characteristics, being a population that should be studied to cause better future management. Some patients treated as CF disease by clinical symptoms, showed no disease, taking into account the sweat test and complete exon sequencing/MLPA screening.en
dc.description.abstractThere are nearly 2000 cystic fibrosis transmembrane regulator (CFTR) mutations that cause cystic fibrosis (CF). These mutations are classified into six classes, on the one hand, the first three classes cause severe disease involvement in early childhood,pt_BR
dc.relation.ispartofGenept_BR
dc.publisher.cityAmsterdampt_BR
dc.publisher.countryPaíses Baixospt_BR
dc.publisherElsevierpt_BR
dc.date.issued2014pt_BR
dc.date.monthofcirculationMaypt_BR
dc.identifier.citationGene. v. 540, n. 2, p. 183-90, 2014-May.pt_BR
dc.language.isoengpt_BR
dc.description.volume540pt_BR
dc.description.issuenumber2pt_BR
dc.description.firstpage183pt_BR
dc.description.lastpage190pt_BR
dc.rightsfechadopt_BR
dc.rightsFechadopt_br
dc.rights.holderCopyright © 2014. Published by Elsevier B.V.pt_BR
dc.sourcePUBMEDpt_BR
dc.identifier.issn0378-1119pt_BR
dc.identifier.eissn1879-0038pt_BR
dc.identifier.doi10.1016/j.gene.2014.02.040pt_BR
dc.identifier.urlhttps://www.sciencedirect.com/science/article/pii/S0378111914002297pt_BR
dc.description.sponsorshipsem informaçãopt_BR
dc.description.sponsordocumentnumbersem informaçãopt_BR
dc.date.available2015-11-27T13:42:00Z-
dc.date.accessioned2015-11-27T13:42:00Z-
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dc.identifier.urihttp://repositorio.unicamp.br/jspui/handle/REPOSIP/201176-
dc.identifier.idPubmed24583165pt_BR
dc.contributor.departmentsem informaçãopt_BR
dc.contributor.departmentsem informaçãopt_BR
dc.contributor.departmentDepartamento de Pediatriapt_BR
dc.contributor.departmentDepartamento de Clínica Médicapt_BR
dc.contributor.departmentDepartamento de Clínica Médicapt_BR
dc.contributor.departmentDepartamento de Pediatriapt_BR
dc.contributor.departmentDepartamento de Genética Médicapt_BR
dc.contributor.unidadeFaculdade de Ciências Médicaspt_BR
dc.contributor.unidadeFaculdade de Ciências Médicaspt_BR
dc.contributor.unidadeFaculdade de Ciências Médicaspt_BR
dc.contributor.unidadeFaculdade de Ciências Médicaspt_BR
dc.contributor.unidadeFaculdade de Ciências Médicaspt_BR
dc.contributor.unidadeFaculdade de Ciências Médicaspt_BR
dc.contributor.unidadeFaculdade de Ciências Médicaspt_BR
dc.identifier.source24583165pt_BR
dc.creator.orcid0000-0002-8342-3599pt_BR
dc.creator.orcidsem informaçãopt_BR
dc.creator.orcid0000-0002-3387-5642pt_BR
dc.creator.orcid0000-0002-0539-4243pt_BR
dc.creator.orcid0000-0002-7669-4841pt_BR
dc.creator.orcidsem informaçãopt_BR
dc.creator.orcid0000-0002-2813-2887pt_BR
dc.type.formArtigo originalpt_BR
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