Short-term complications after renal transplantation in AFibE526V (p.Glu545Val) amyloidosis

Detalhes bibliográficos
Autor(a) principal: Tavares, Isabel
Data de Publicação: 2019
Outros Autores: Silvano, José, Moreira, Luciana, Oliveira, Márcia E., Silva, Roberto, Sampaio, Susana, 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/10400.18/6608
Resumo: Introduction: Fibrinogen Aa chain (AFib) amyloidosis is an autosomal dominant disease that typically presents with predominant renal involvement and has a predictable progressive clinical course [1]. The p.Glu545Val AFib gene (FGA) mutation is at the origin of all AFib amyloidosis cases (AFibE526V [p.Glu545Val]) that have been identified in Portugal so far, and accounts for the disease in 17 families. Current treatment of AFib amyloidosis comprises both supportive measures and disease-modifying approaches, such as liver transplantation [2,3]. Renal transplantation (RTx) is a supportive therapy with risk of premature graft loss due to amyloid recurrence or other unexpected complications related to progression of extrarenal amyloid deposition. The aim of this study was to evaluate the outcome of Portuguese patients with AFibE526V (p.Glu545Val) amyloidosis after RTx.
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spelling Short-term complications after renal transplantation in AFibE526V (p.Glu545Val) amyloidosisAdultAgedAmino Acid SubstitutionFemaleHumansMaleMiddle AgedAmyloidosisFibrinogenGraft RejectionKidney TransplantationMutation, MissenseDoenças GenéticasIntroduction: Fibrinogen Aa chain (AFib) amyloidosis is an autosomal dominant disease that typically presents with predominant renal involvement and has a predictable progressive clinical course [1]. The p.Glu545Val AFib gene (FGA) mutation is at the origin of all AFib amyloidosis cases (AFibE526V [p.Glu545Val]) that have been identified in Portugal so far, and accounts for the disease in 17 families. Current treatment of AFib amyloidosis comprises both supportive measures and disease-modifying approaches, such as liver transplantation [2,3]. Renal transplantation (RTx) is a supportive therapy with risk of premature graft loss due to amyloid recurrence or other unexpected complications related to progression of extrarenal amyloid deposition. The aim of this study was to evaluate the outcome of Portuguese patients with AFibE526V (p.Glu545Val) amyloidosis after RTx.This work was supported by Sociedade Portuguesa de NefrologiaThis work was supported by Sociedade Portuguesa de Nefrologia.Taylor & FrancisRepositório Científico do Instituto Nacional de SaúdeTavares, IsabelSilvano, JoséMoreira, LucianaOliveira, Márcia E.Silva, RobertoSampaio, SusanaCosta, Paulo PinhoLobato, Luísa2020-05-07T17:57:42Z2019-07-252019-07-25T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/6608engAmyloid. 2019;26(Supl1):162-163. doi: 10.1080/13506129.2019.1583196. Epub 2019 Jul 251350-612910.1080/13506129.2019.1583196info: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:RCAAP2023-07-20T15:41:45Zoai:repositorio.insa.pt:10400.18/6608Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:41:41.538776Repositório 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 Short-term complications after renal transplantation in AFibE526V (p.Glu545Val) amyloidosis
title Short-term complications after renal transplantation in AFibE526V (p.Glu545Val) amyloidosis
spellingShingle Short-term complications after renal transplantation in AFibE526V (p.Glu545Val) amyloidosis
Tavares, Isabel
Adult
Aged
Amino Acid Substitution
Female
Humans
Male
Middle Aged
Amyloidosis
Fibrinogen
Graft Rejection
Kidney Transplantation
Mutation, Missense
Doenças Genéticas
title_short Short-term complications after renal transplantation in AFibE526V (p.Glu545Val) amyloidosis
title_full Short-term complications after renal transplantation in AFibE526V (p.Glu545Val) amyloidosis
title_fullStr Short-term complications after renal transplantation in AFibE526V (p.Glu545Val) amyloidosis
title_full_unstemmed Short-term complications after renal transplantation in AFibE526V (p.Glu545Val) amyloidosis
title_sort Short-term complications after renal transplantation in AFibE526V (p.Glu545Val) amyloidosis
author Tavares, Isabel
author_facet Tavares, Isabel
Silvano, José
Moreira, Luciana
Oliveira, Márcia E.
Silva, Roberto
Sampaio, Susana
Costa, Paulo Pinho
Lobato, Luísa
author_role author
author2 Silvano, José
Moreira, Luciana
Oliveira, Márcia E.
Silva, Roberto
Sampaio, Susana
Costa, Paulo Pinho
Lobato, Luísa
author2_role 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
Silvano, José
Moreira, Luciana
Oliveira, Márcia E.
Silva, Roberto
Sampaio, Susana
Costa, Paulo Pinho
Lobato, Luísa
dc.subject.por.fl_str_mv Adult
Aged
Amino Acid Substitution
Female
Humans
Male
Middle Aged
Amyloidosis
Fibrinogen
Graft Rejection
Kidney Transplantation
Mutation, Missense
Doenças Genéticas
topic Adult
Aged
Amino Acid Substitution
Female
Humans
Male
Middle Aged
Amyloidosis
Fibrinogen
Graft Rejection
Kidney Transplantation
Mutation, Missense
Doenças Genéticas
description Introduction: Fibrinogen Aa chain (AFib) amyloidosis is an autosomal dominant disease that typically presents with predominant renal involvement and has a predictable progressive clinical course [1]. The p.Glu545Val AFib gene (FGA) mutation is at the origin of all AFib amyloidosis cases (AFibE526V [p.Glu545Val]) that have been identified in Portugal so far, and accounts for the disease in 17 families. Current treatment of AFib amyloidosis comprises both supportive measures and disease-modifying approaches, such as liver transplantation [2,3]. Renal transplantation (RTx) is a supportive therapy with risk of premature graft loss due to amyloid recurrence or other unexpected complications related to progression of extrarenal amyloid deposition. The aim of this study was to evaluate the outcome of Portuguese patients with AFibE526V (p.Glu545Val) amyloidosis after RTx.
publishDate 2019
dc.date.none.fl_str_mv 2019-07-25
2019-07-25T00:00:00Z
2020-05-07T17:57:42Z
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/10400.18/6608
url http://hdl.handle.net/10400.18/6608
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Amyloid. 2019;26(Supl1):162-163. doi: 10.1080/13506129.2019.1583196. Epub 2019 Jul 25
1350-6129
10.1080/13506129.2019.1583196
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 Taylor & Francis
publisher.none.fl_str_mv Taylor & Francis
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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