New combined CFH/MCP mutations and a rare clinical course in atypical haemolytic uraemic syndrome

Detalhes bibliográficos
Autor(a) principal: Lopes, D
Data de Publicação: 2015
Outros Autores: Gomes, AM, Cunha, C, Pinto, CS, Fidalgo, T, Fernandes, JC
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.4/2180
Resumo: Atypical haemolytic uraemic syndrome (aHUS) is a rare, life-threatening, chronic, genetic disease due to uncontrolled alternative pathway complement activation. In this report, we discuss the case of a heterozygous carrier of a mutation on both factor H and membrane cofactor protein, who persistently presents haemolytic anaemia without need for blood transfusions, normal platelet count, normal renal function and no signs or symptoms of organ injury due to thrombotic microangiopathy 4 years after the diagnosis of aHUS.
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spelling New combined CFH/MCP mutations and a rare clinical course in atypical haemolytic uraemic syndromeSíndrome Hemolítico-UrémicoMutação/genéticaAtypical haemolytic uraemic syndrome (aHUS) is a rare, life-threatening, chronic, genetic disease due to uncontrolled alternative pathway complement activation. In this report, we discuss the case of a heterozygous carrier of a mutation on both factor H and membrane cofactor protein, who persistently presents haemolytic anaemia without need for blood transfusions, normal platelet count, normal renal function and no signs or symptoms of organ injury due to thrombotic microangiopathy 4 years after the diagnosis of aHUS.RIHUCLopes, DGomes, AMCunha, CPinto, CSFidalgo, TFernandes, JC2018-11-28T12:42:19Z2015-122015-12-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.4/2180engClin Kidney J. 2015 Dec;8(6):695-7.10.1093/ckj/sfv102info: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:10400.4/2180Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:04:38.787006Repositório 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 New combined CFH/MCP mutations and a rare clinical course in atypical haemolytic uraemic syndrome
title New combined CFH/MCP mutations and a rare clinical course in atypical haemolytic uraemic syndrome
spellingShingle New combined CFH/MCP mutations and a rare clinical course in atypical haemolytic uraemic syndrome
Lopes, D
Síndrome Hemolítico-Urémico
Mutação/genética
title_short New combined CFH/MCP mutations and a rare clinical course in atypical haemolytic uraemic syndrome
title_full New combined CFH/MCP mutations and a rare clinical course in atypical haemolytic uraemic syndrome
title_fullStr New combined CFH/MCP mutations and a rare clinical course in atypical haemolytic uraemic syndrome
title_full_unstemmed New combined CFH/MCP mutations and a rare clinical course in atypical haemolytic uraemic syndrome
title_sort New combined CFH/MCP mutations and a rare clinical course in atypical haemolytic uraemic syndrome
author Lopes, D
author_facet Lopes, D
Gomes, AM
Cunha, C
Pinto, CS
Fidalgo, T
Fernandes, JC
author_role author
author2 Gomes, AM
Cunha, C
Pinto, CS
Fidalgo, T
Fernandes, JC
author2_role author
author
author
author
author
dc.contributor.none.fl_str_mv RIHUC
dc.contributor.author.fl_str_mv Lopes, D
Gomes, AM
Cunha, C
Pinto, CS
Fidalgo, T
Fernandes, JC
dc.subject.por.fl_str_mv Síndrome Hemolítico-Urémico
Mutação/genética
topic Síndrome Hemolítico-Urémico
Mutação/genética
description Atypical haemolytic uraemic syndrome (aHUS) is a rare, life-threatening, chronic, genetic disease due to uncontrolled alternative pathway complement activation. In this report, we discuss the case of a heterozygous carrier of a mutation on both factor H and membrane cofactor protein, who persistently presents haemolytic anaemia without need for blood transfusions, normal platelet count, normal renal function and no signs or symptoms of organ injury due to thrombotic microangiopathy 4 years after the diagnosis of aHUS.
publishDate 2015
dc.date.none.fl_str_mv 2015-12
2015-12-01T00:00:00Z
2018-11-28T12:42:19Z
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/10400.4/2180
url http://hdl.handle.net/10400.4/2180
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Clin Kidney J. 2015 Dec;8(6):695-7.
10.1093/ckj/sfv102
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)
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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