Défice de Fator H

Detalhes bibliográficos
Autor(a) principal: Rocha, Ana Paula
Data de Publicação: 2019
Outros Autores: Borges, Madalena, Neves, Conceição, Neves, João Farela
Tipo de documento: Artigo
Idioma: por
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10362/70387
Resumo: We report a case of an 18-month-old boy with H factor deficiency with atypical presentation: recurrent acute otitis media and several maternal family members with autoimmune disorders (vitiligo, thyroiditis and immune trombocytopenia). Blood tests revealed low C3 and AH50, as well as low properdin and H factor. I factor was normal. CFH gene molecular test confirmed the H factor deficiency diagnosis. This child had none of the typical manifestations of this disorder, namely Neisseria meningitidis infection or renal disease (glomerulonephritis and atypical haemolytic uremic syndrome). Autoimmune family history and correct interpretation of blood tests' results were crucial for this diagnosis.
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spelling Défice de Fator HH Factor DeficiencyA Case with an Atypical PresentationUm Caso com Apresentação AtípicaChildComplement Factor HImmunologic Deficiency SyndromesOtitis MediaWe report a case of an 18-month-old boy with H factor deficiency with atypical presentation: recurrent acute otitis media and several maternal family members with autoimmune disorders (vitiligo, thyroiditis and immune trombocytopenia). Blood tests revealed low C3 and AH50, as well as low properdin and H factor. I factor was normal. CFH gene molecular test confirmed the H factor deficiency diagnosis. This child had none of the typical manifestations of this disorder, namely Neisseria meningitidis infection or renal disease (glomerulonephritis and atypical haemolytic uremic syndrome). Autoimmune family history and correct interpretation of blood tests' results were crucial for this diagnosis.Centro de Estudos de Doenças Crónicas (CEDOC)NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)RUNRocha, Ana PaulaBorges, MadalenaNeves, ConceiçãoNeves, João Farela2019-05-21T22:17:26Z2019-02-282019-02-28T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article4application/pdfhttp://hdl.handle.net/10362/70387por1646-0758PURE: 12987039https://doi.org/10.20344/amp.10301info: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:RCAAP2024-03-11T04:33:19Zoai:run.unl.pt:10362/70387Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T03:35:04.918745Repositório 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 Défice de Fator H
H Factor DeficiencyA Case with an Atypical Presentation
Um Caso com Apresentação Atípica
title Défice de Fator H
spellingShingle Défice de Fator H
Rocha, Ana Paula
Child
Complement Factor H
Immunologic Deficiency Syndromes
Otitis Media
title_short Défice de Fator H
title_full Défice de Fator H
title_fullStr Défice de Fator H
title_full_unstemmed Défice de Fator H
title_sort Défice de Fator H
author Rocha, Ana Paula
author_facet Rocha, Ana Paula
Borges, Madalena
Neves, Conceição
Neves, João Farela
author_role author
author2 Borges, Madalena
Neves, Conceição
Neves, João Farela
author2_role author
author
author
dc.contributor.none.fl_str_mv Centro de Estudos de Doenças Crónicas (CEDOC)
NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
RUN
dc.contributor.author.fl_str_mv Rocha, Ana Paula
Borges, Madalena
Neves, Conceição
Neves, João Farela
dc.subject.por.fl_str_mv Child
Complement Factor H
Immunologic Deficiency Syndromes
Otitis Media
topic Child
Complement Factor H
Immunologic Deficiency Syndromes
Otitis Media
description We report a case of an 18-month-old boy with H factor deficiency with atypical presentation: recurrent acute otitis media and several maternal family members with autoimmune disorders (vitiligo, thyroiditis and immune trombocytopenia). Blood tests revealed low C3 and AH50, as well as low properdin and H factor. I factor was normal. CFH gene molecular test confirmed the H factor deficiency diagnosis. This child had none of the typical manifestations of this disorder, namely Neisseria meningitidis infection or renal disease (glomerulonephritis and atypical haemolytic uremic syndrome). Autoimmune family history and correct interpretation of blood tests' results were crucial for this diagnosis.
publishDate 2019
dc.date.none.fl_str_mv 2019-05-21T22:17:26Z
2019-02-28
2019-02-28T00:00:00Z
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/10362/70387
url http://hdl.handle.net/10362/70387
dc.language.iso.fl_str_mv por
language por
dc.relation.none.fl_str_mv 1646-0758
PURE: 12987039
https://doi.org/10.20344/amp.10301
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 4
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
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