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/10400.17/3044
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.
id RCAP_fddaa5f31be5cd48df48cfe66f1a42d8
oai_identifier_str oai:repositorio.chlc.min-saude.pt:10400.17/3044
network_acronym_str RCAP
network_name_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository_id_str 7160
spelling Atypical Adult-Onset Methylmalonic Acidemia and Homocystinuria Presenting as Hemolytic Uremic SyndromeMethylmalonic aciduria and homocystinuriaThrombotic microangiopathyVitamin B12 metabolismCase ReportHDE MTBHSJ PAT CLINHCC NEFThrombotic 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.SpringerRepositório do Centro Hospitalar Universitário de Lisboa Central, EPENavarro, DAzevedo, ASequeira, SFerreira, ACCarvalho, FFidalgo, TVilarinho, LSantos, MCCalado, JNolasco, F2018-08-28T11:25:12Z2018-052018-05-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.17/3044engCEN 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:RCAAP2023-03-10T09:40:58Zoai:repositorio.chlc.min-saude.pt:10400.17/3044Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T17:20:21.238507Repositório 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
Methylmalonic aciduria and homocystinuria
Thrombotic microangiopathy
Vitamin B12 metabolism
Case Report
HDE MTB
HSJ PAT CLIN
HCC NEF
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 Repositório do Centro Hospitalar Universitário de Lisboa Central, EPE
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 Methylmalonic aciduria and homocystinuria
Thrombotic microangiopathy
Vitamin B12 metabolism
Case Report
HDE MTB
HSJ PAT CLIN
HCC NEF
topic Methylmalonic aciduria and homocystinuria
Thrombotic microangiopathy
Vitamin B12 metabolism
Case Report
HDE MTB
HSJ PAT CLIN
HCC NEF
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 2018-08-28T11:25:12Z
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
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.17/3044
url http://hdl.handle.net/10400.17/3044
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.publisher.none.fl_str_mv Springer
publisher.none.fl_str_mv Springer
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
_version_ 1799131299782328320

Registros relacionados