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Unrecognized Fibrinogen A α-Chain Amyloidosis: Results From Targeted Genetic Testing

2017-08Artigo científico Acesso restrito
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dc.contributor.authorTavares, Isabel
dc.contributor.authorOliveira, João Paulo
dc.contributor.authorPinho, Ana
dc.contributor.authorMoreira, Luciana
dc.contributor.authorRocha, Liliana
dc.contributor.authorSantos, Josefina
dc.contributor.authorPinheiro, Joaquim
dc.contributor.authorCosta, Paulo Pinho
dc.contributor.authorLobato, Luísa
dc.date.accessioned2018-03-23T11:20:19Z
dc.date.available2018-03-23T11:20:19Z
dc.date.issued2017-08
dc.description.abstractFibrinogen A α-chain (AFib) amyloidosis results from autosomal-dominant mutations in the gene encoding AFib (FGA). Patients with this disorder typically present with proteinuria. Isolated cases of AFib amyloidosis, carrying the FGA p.Glu545Val variant, were identified in the district of Braga, in northwest Portugal. This observation led us to hypothesize that this disorder might be an unrecognized cause of kidney disease in that region and prompted us to carry out targeted genetic testing for the p.Glu545Val variant in the local hemodialysis population and family members of identified cases.pt_PT
dc.description.sponsorshipThis work was partially supported by National Funds through the FCT–Fundação para a Ciência e Tecnologia (Portuguese national funding agency for science, research and technology) in the frameworks of the PEst-OE/SAU/UI0215/2014 project–Unit for Multidisciplinary Research in Biomedicine– UMIB/ICBAS/UP; and by a research grant from the Portuguese Society of Nephrology.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationAm J Kidney Dis. 2017 Aug;70(2):235-243. doi: 10.1053/j.ajkd.2017.01.048. Epub 2017 Mar 27.pt_PT
dc.identifier.doi10.1053/j.ajkd.2017.01.048pt_PT
dc.identifier.issn0272-6386
dc.identifier.urihttp://hdl.handle.net/10400.18/5471
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevier/National Kidney Foundationpt_PT
dc.relation.publisherversionhttps://linkinghub.elsevier.com/retrieve/pii/S0272-6386(17)30539-5pt_PT
dc.subjectAgedpt_PT
dc.subjectAmyloidosispt_PT
dc.subjectFemalept_PT
dc.subjectFibrinogenpt_PT
dc.subjectGenetic Testingpt_PT
dc.subjectHumanspt_PT
dc.subjectKidney Diseasespt_PT
dc.subjectMalept_PT
dc.subjectMiddle Agedpt_PT
dc.subjectRetrospective Studiespt_PT
dc.subjectMutationpt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleUnrecognized Fibrinogen A α-Chain Amyloidosis: Results From Targeted Genetic Testingpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/5876/PEst-OE%2FSAU%2FUI0215%2F2014/PT
oaire.citation.endPage243pt_PT
oaire.citation.issue2pt_PT
oaire.citation.startPage235pt_PT
oaire.citation.titleAmerican Journal of Kidney Diseasespt_PT
oaire.citation.volume70pt_PT
oaire.fundingStream5876
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT
relation.isProjectOfPublication503ef8a3-87a1-4e91-9e1a-49e0702092a6
relation.isProjectOfPublication.latestForDiscovery503ef8a3-87a1-4e91-9e1a-49e0702092a6

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