Défice de Fator H: Um Caso com Apresentação Atípica

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

doi:10.20344/amp.10301

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

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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.

Translated title of the contribution	H Factor Deficiency: A Case with an Atypical Presentation
Original language	Portuguese
Pages (from-to)	158-161
Number of pages	4
Journal	Acta Médica Portuguesa
Volume	32
Issue number	2
DOIs	https://doi.org/10.20344/amp.10301
Publication status	Published - 28 Feb 2019

Keywords

Child
Complement Factor H
Immunologic Deficiency Syndromes
Otitis Media

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10301-42957-2-PBFinal published version, 497 KBLicence: CC BY-NC-ND

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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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author = "Rocha, {Ana Paula} and Madalena Borges and Concei{\c c}{\~a}o Neves and Neves, {Jo{\~a}o Farela}",

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AU - Borges, Madalena

AU - Neves, Conceição

AU - Neves, João Farela

PY - 2019/2/28

Y1 - 2019/2/28

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KW - Complement Factor H

KW - Immunologic Deficiency Syndromes

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JF - Acta Médica Portuguesa

SN - 1646-0758

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Défice de Fator H: Um Caso com Apresentação Atípica

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