H Factor Deficiency: A Case with an Atypical Presentation

Detalhes bibliográficos
Autor(a) principal: Rocha, AP
Data de Publicação: 2019
Outros Autores: Borges, M, Neves, C, Neves, JF
Tipo de documento: Artigo
Idioma: por
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.17/3247
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 H Factor Deficiency: A Case with an Atypical PresentationDéfice de Fator H: Um Caso com Apresentação AtípicaComplement Factor HImmunologic Deficiency SyndromesOtitis MediaChildHDE PEDWe 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 Editor Livreiro da Ordem dos MédicosRepositório do Centro Hospitalar Universitário de Lisboa Central, EPERocha, APBorges, MNeves, CNeves, JF2019-04-10T09:29:56Z2019-02-282019-02-28T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.17/3247porActa Med Port. 2019;32(2):158-16110.20344/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:RCAAP2023-03-10T09:42:02Zoai:repositorio.chlc.min-saude.pt:10400.17/3247Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T17:20:34.470317Repositório 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 H Factor Deficiency: A Case with an Atypical Presentation
Défice de Fator H: Um Caso com Apresentação Atípica
title H Factor Deficiency: A Case with an Atypical Presentation
spellingShingle H Factor Deficiency: A Case with an Atypical Presentation
Rocha, AP
Complement Factor H
Immunologic Deficiency Syndromes
Otitis Media
Child
HDE PED
title_short H Factor Deficiency: A Case with an Atypical Presentation
title_full H Factor Deficiency: A Case with an Atypical Presentation
title_fullStr H Factor Deficiency: A Case with an Atypical Presentation
title_full_unstemmed H Factor Deficiency: A Case with an Atypical Presentation
title_sort H Factor Deficiency: A Case with an Atypical Presentation
author Rocha, AP
author_facet Rocha, AP
Borges, M
Neves, C
Neves, JF
author_role author
author2 Borges, M
Neves, C
Neves, JF
author2_role author
author
author
dc.contributor.none.fl_str_mv Repositório do Centro Hospitalar Universitário de Lisboa Central, EPE
dc.contributor.author.fl_str_mv Rocha, AP
Borges, M
Neves, C
Neves, JF
dc.subject.por.fl_str_mv Complement Factor H
Immunologic Deficiency Syndromes
Otitis Media
Child
HDE PED
topic Complement Factor H
Immunologic Deficiency Syndromes
Otitis Media
Child
HDE PED
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 2019-04-10T09:29:56Z
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/10400.17/3247
url http://hdl.handle.net/10400.17/3247
dc.language.iso.fl_str_mv por
language por
dc.relation.none.fl_str_mv Acta Med Port. 2019;32(2):158-161
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 application/pdf
dc.publisher.none.fl_str_mv Centro Editor Livreiro da Ordem dos Médicos
publisher.none.fl_str_mv Centro Editor Livreiro da Ordem dos Médicos
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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