H Factor Deficiency: A Case with an Atypical Presentation

Detalhes bibliográficos
Autor(a) principal: Rocha, Ana Paula
Data de Publicação: 2019
Outros Autores: Borges, Madalena, Neves, Conceição, Farela Neves, João
Tipo de documento: Artigo
Idioma: por
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/10301
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 AtípicaChildComplement Factor HImmunologic Deficiency SyndromesOtitis MediaCriançaFator H do ComplementoOtite MédiaSíndromes de ImunodeficiênciaWe 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.Apresenta-se um caso clínico de um rapaz de 18 meses com défice de fator H com apresentação clínica atípica – otite média aguda recorrente e história familiar da linhagem materna com doença autoimune (vitiligo, tiroidite e púrpura trombocitopénica imune). Analiticamente apresentava C3 e AH50 diminuídos, assim como properdina e fator H baixos. O fator I era normal. O estudo molecular do gene CFH confirmou o diagnóstico de défice de fator H. Esta criança não teve nenhuma das manifestações típicas, nomeadamente doença invasiva por Neisseria meningitidis ou doença renal (glomerulonefrite e síndrome hemolítica urémica atípica). A história familiar de autoimunidade e a correta interpretação dos achados laboratoriais foram fundamentais para o diagnóstico.Ordem dos Médicos2019-02-28info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfimage/jpegimage/jpegapplication/pdfimage/jpegimage/jpeghttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/10301oai:ojs.www.actamedicaportuguesa.com:article/10301Acta Médica Portuguesa; Vol. 32 No. 2 (2019): February; 158-161Acta Médica Portuguesa; Vol. 32 N.º 2 (2019): Fevereiro; 158-1611646-07580870-399Xreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPporhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/10301https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/10301/5622https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/10301/9988https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/10301/9989https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/10301/9990https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/10301/10123https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/10301/10253Direitos de Autor (c) 2019 Acta Médica Portuguesainfo:eu-repo/semantics/openAccessRocha, Ana PaulaBorges, MadalenaNeves, ConceiçãoFarela Neves, João2022-12-20T11:05:56ZPortal AgregadorONG
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, Ana Paula
Child
Complement Factor H
Immunologic Deficiency Syndromes
Otitis Media
Criança
Fator H do Complemento
Otite Média
Síndromes de Imunodeficiência
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, Ana Paula
author_facet Rocha, Ana Paula
Borges, Madalena
Neves, Conceição
Farela Neves, João
author_role author
author2 Borges, Madalena
Neves, Conceição
Farela Neves, João
author2_role author
author
author
dc.contributor.author.fl_str_mv Rocha, Ana Paula
Borges, Madalena
Neves, Conceição
Farela Neves, João
dc.subject.por.fl_str_mv Child
Complement Factor H
Immunologic Deficiency Syndromes
Otitis Media
Criança
Fator H do Complemento
Otite Média
Síndromes de Imunodeficiência
topic Child
Complement Factor H
Immunologic Deficiency Syndromes
Otitis Media
Criança
Fator H do Complemento
Otite Média
Síndromes de Imunodeficiência
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 2019-02-28
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 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/10301
oai:ojs.www.actamedicaportuguesa.com:article/10301
url https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/10301
identifier_str_mv oai:ojs.www.actamedicaportuguesa.com:article/10301
dc.language.iso.fl_str_mv por
language por
dc.relation.none.fl_str_mv https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/10301
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/10301/5622
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/10301/9988
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/10301/9989
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/10301/9990
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/10301/10123
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/10301/10253
dc.rights.driver.fl_str_mv Direitos de Autor (c) 2019 Acta Médica Portuguesa
info:eu-repo/semantics/openAccess
rights_invalid_str_mv Direitos de Autor (c) 2019 Acta Médica Portuguesa
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
image/jpeg
image/jpeg
application/pdf
image/jpeg
image/jpeg
dc.publisher.none.fl_str_mv Ordem dos Médicos
publisher.none.fl_str_mv Ordem dos Médicos
dc.source.none.fl_str_mv Acta Médica Portuguesa; Vol. 32 No. 2 (2019): February; 158-161
Acta Médica Portuguesa; Vol. 32 N.º 2 (2019): Fevereiro; 158-161
1646-0758
0870-399X
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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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)
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