Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome

Detalhes bibliográficos
Autor(a) principal: Navarro, D
Data de Publicação: 2018
Outros Autores: Azevedo, A, Sequeira, S, Ferreira, AC, Carvalho, F, Fidalgo, T, Vilarinho, L, Santos, MC, Calado, J, Nolasco, F
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.4/2181
Resumo: Thrombotic microangiopathy (TMA) syndromes can be secondary to a multitude of different diseases. Most can be identified with a systematic approach and, when excluded, TMA is generally attributed to a dysregulation in the activity of the complement alternative pathways-atypical hemolytic uremic syndrome (aHUS). We present a challenging case of a 19-year-old woman who presented with thrombotic microangiopathy, which was found to be caused by methylmalonic acidemia and homocystinuria, a rare vitamin B12 metabolism deficiency. To our knowledge, this is the first time that an adult-onset methylmalonic acidemia and homocystinuria presents as TMA preceding CNS involvement.
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spelling Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndromeSíndrome Hemolítico-Urémico AtípicoErros Inatos do Metabolismo dos AminoácidosÁcido MetilmalónicoThrombotic microangiopathy (TMA) syndromes can be secondary to a multitude of different diseases. Most can be identified with a systematic approach and, when excluded, TMA is generally attributed to a dysregulation in the activity of the complement alternative pathways-atypical hemolytic uremic syndrome (aHUS). We present a challenging case of a 19-year-old woman who presented with thrombotic microangiopathy, which was found to be caused by methylmalonic acidemia and homocystinuria, a rare vitamin B12 metabolism deficiency. To our knowledge, this is the first time that an adult-onset methylmalonic acidemia and homocystinuria presents as TMA preceding CNS involvement.RIHUCNavarro, DAzevedo, ASequeira, SFerreira, ACCarvalho, FFidalgo, TVilarinho, LSantos, MCCalado, JNolasco, F2018-11-28T12:42:59Z2018-052018-05-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.4/2181engCEN Case Rep. 2018 May;7(1):73-76.10.1007/s13730-017-0298-6info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-11T14:23:30Zoai:rihuc.huc.min-saude.pt:10400.4/2181Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:04:38.735942Repositório 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 Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome
title Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome
spellingShingle Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome
Navarro, D
Síndrome Hemolítico-Urémico Atípico
Erros Inatos do Metabolismo dos Aminoácidos
Ácido Metilmalónico
title_short Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome
title_full Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome
title_fullStr Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome
title_full_unstemmed Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome
title_sort Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome
author Navarro, D
author_facet Navarro, D
Azevedo, A
Sequeira, S
Ferreira, AC
Carvalho, F
Fidalgo, T
Vilarinho, L
Santos, MC
Calado, J
Nolasco, F
author_role author
author2 Azevedo, A
Sequeira, S
Ferreira, AC
Carvalho, F
Fidalgo, T
Vilarinho, L
Santos, MC
Calado, J
Nolasco, F
author2_role author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv RIHUC
dc.contributor.author.fl_str_mv Navarro, D
Azevedo, A
Sequeira, S
Ferreira, AC
Carvalho, F
Fidalgo, T
Vilarinho, L
Santos, MC
Calado, J
Nolasco, F
dc.subject.por.fl_str_mv Síndrome Hemolítico-Urémico Atípico
Erros Inatos do Metabolismo dos Aminoácidos
Ácido Metilmalónico
topic Síndrome Hemolítico-Urémico Atípico
Erros Inatos do Metabolismo dos Aminoácidos
Ácido Metilmalónico
description Thrombotic microangiopathy (TMA) syndromes can be secondary to a multitude of different diseases. Most can be identified with a systematic approach and, when excluded, TMA is generally attributed to a dysregulation in the activity of the complement alternative pathways-atypical hemolytic uremic syndrome (aHUS). We present a challenging case of a 19-year-old woman who presented with thrombotic microangiopathy, which was found to be caused by methylmalonic acidemia and homocystinuria, a rare vitamin B12 metabolism deficiency. To our knowledge, this is the first time that an adult-onset methylmalonic acidemia and homocystinuria presents as TMA preceding CNS involvement.
publishDate 2018
dc.date.none.fl_str_mv 2018-11-28T12:42:59Z
2018-05
2018-05-01T00:00:00Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
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dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.4/2181
url http://hdl.handle.net/10400.4/2181
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv CEN Case Rep. 2018 May;7(1):73-76.
10.1007/s13730-017-0298-6
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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