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

Detalhes bibliográficos
Autor(a) principal: Tavares, Isabel
Data de Publicação: 2017
Outros Autores: Oliveira, João Paulo, Pinho, Ana, Moreira, Luciana, Rocha, Liliana, Santos, Josefina, Pinheiro, Joaquim, Costa, Paulo Pinho, Lobato, Luísa
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.18/5471
Resumo: Fibrinogen 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.
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spelling Unrecognized Fibrinogen A α-Chain Amyloidosis: Results From Targeted Genetic TestingAgedAmyloidosisFemaleFibrinogenGenetic TestingHumansKidney DiseasesMaleMiddle AgedRetrospective StudiesMutationDoenças GenéticasFibrinogen 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.This 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.Elsevier/National Kidney FoundationRepositório Científico do Instituto Nacional de SaúdeTavares, IsabelOliveira, João PauloPinho, AnaMoreira, LucianaRocha, LilianaSantos, JosefinaPinheiro, JoaquimCosta, Paulo PinhoLobato, Luísa2018-03-23T11:20:19Z2017-082017-08-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/5471engAm J Kidney Dis. 2017 Aug;70(2):235-243. doi: 10.1053/j.ajkd.2017.01.048. Epub 2017 Mar 27.0272-638610.1053/j.ajkd.2017.01.048info:eu-repo/semantics/embargoedAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-20T15:40:53Zoai:repositorio.insa.pt:10400.18/5471Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:40:09.669061Repositório 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 Unrecognized Fibrinogen A α-Chain Amyloidosis: Results From Targeted Genetic Testing
title Unrecognized Fibrinogen A α-Chain Amyloidosis: Results From Targeted Genetic Testing
spellingShingle Unrecognized Fibrinogen A α-Chain Amyloidosis: Results From Targeted Genetic Testing
Tavares, Isabel
Aged
Amyloidosis
Female
Fibrinogen
Genetic Testing
Humans
Kidney Diseases
Male
Middle Aged
Retrospective Studies
Mutation
Doenças Genéticas
title_short Unrecognized Fibrinogen A α-Chain Amyloidosis: Results From Targeted Genetic Testing
title_full Unrecognized Fibrinogen A α-Chain Amyloidosis: Results From Targeted Genetic Testing
title_fullStr Unrecognized Fibrinogen A α-Chain Amyloidosis: Results From Targeted Genetic Testing
title_full_unstemmed Unrecognized Fibrinogen A α-Chain Amyloidosis: Results From Targeted Genetic Testing
title_sort Unrecognized Fibrinogen A α-Chain Amyloidosis: Results From Targeted Genetic Testing
author Tavares, Isabel
author_facet Tavares, Isabel
Oliveira, João Paulo
Pinho, Ana
Moreira, Luciana
Rocha, Liliana
Santos, Josefina
Pinheiro, Joaquim
Costa, Paulo Pinho
Lobato, Luísa
author_role author
author2 Oliveira, João Paulo
Pinho, Ana
Moreira, Luciana
Rocha, Liliana
Santos, Josefina
Pinheiro, Joaquim
Costa, Paulo Pinho
Lobato, Luísa
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 Tavares, Isabel
Oliveira, João Paulo
Pinho, Ana
Moreira, Luciana
Rocha, Liliana
Santos, Josefina
Pinheiro, Joaquim
Costa, Paulo Pinho
Lobato, Luísa
dc.subject.por.fl_str_mv Aged
Amyloidosis
Female
Fibrinogen
Genetic Testing
Humans
Kidney Diseases
Male
Middle Aged
Retrospective Studies
Mutation
Doenças Genéticas
topic Aged
Amyloidosis
Female
Fibrinogen
Genetic Testing
Humans
Kidney Diseases
Male
Middle Aged
Retrospective Studies
Mutation
Doenças Genéticas
description Fibrinogen 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.
publishDate 2017
dc.date.none.fl_str_mv 2017-08
2017-08-01T00:00:00Z
2018-03-23T11:20:19Z
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/10400.18/5471
url http://hdl.handle.net/10400.18/5471
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Am J Kidney Dis. 2017 Aug;70(2):235-243. doi: 10.1053/j.ajkd.2017.01.048. Epub 2017 Mar 27.
0272-6386
10.1053/j.ajkd.2017.01.048
dc.rights.driver.fl_str_mv info:eu-repo/semantics/embargoedAccess
eu_rights_str_mv embargoedAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Elsevier/National Kidney Foundation
publisher.none.fl_str_mv Elsevier/National Kidney Foundation
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
repository.mail.fl_str_mv
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