Défice de Fator H

Um Caso com Apresentação Atípica

Translated title of the contribution: H Factor Deficiency: A Case with an Atypical Presentation

Ana Paula Rocha, Madalena Borges, Conceição Neves, João Farela Neves

Research output: Contribution to journalArticle

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Abstract

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.

Original languagePortuguese
Pages (from-to)158-161
Number of pages4
JournalActa medica portuguesa
Volume32
Issue number2
DOIs
Publication statusPublished - 28 Feb 2019

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Hematologic Tests
Properdin
Thyroiditis
Vitiligo
Neisseria meningitidis
Otitis Media
Glomerulonephritis
Mothers
Kidney
Infection
Genes
Complement Factor H Deficiency
Atypical Hemolytic Uremic Syndrome

Keywords

  • Child
  • Complement Factor H
  • Immunologic Deficiency Syndromes
  • Otitis Media

Cite this

Rocha, Ana Paula ; Borges, Madalena ; Neves, Conceição ; Neves, João Farela. / Défice de Fator H : Um Caso com Apresentação Atípica. In: Acta medica portuguesa. 2019 ; Vol. 32, No. 2. pp. 158-161.
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abstract = "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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Défice de Fator H : Um Caso com Apresentação Atípica. / Rocha, Ana Paula; Borges, Madalena; Neves, Conceição; Neves, João Farela.

In: Acta medica portuguesa, Vol. 32, No. 2, 28.02.2019, p. 158-161.

Research output: Contribution to journalArticle

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AB - 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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