H Factor Deficiency: A Case with an Atypical Presentation

Authors

  • Ana Paula Rocha Unidade de Imunodeficiências Primárias. Serviço de Pediatria. Hospital Dona Estefânia. Centro Hospitalar Lisboa Central. Lisboa.
  • Madalena Borges Unidade de Imunodeficiências Primárias. Serviço de Pediatria. Hospital Dona Estefânia. Centro Hospitalar Lisboa Central. Lisboa.
  • Conceição Neves Unidade de Imunodeficiências Primárias. Serviço de Pediatria. Hospital Dona Estefânia. Centro Hospitalar Lisboa Central. Lisboa.
  • João Farela Neves Unidade de Imunodeficiências Primárias. Serviço de Pediatria. Hospital Dona Estefânia. Centro Hospitalar Lisboa Central. Lisboa. Chronic Diseases Research Center. NOVA Medical School. Lisboa.

DOI:

https://doi.org/10.20344/amp.10301

Keywords:

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

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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Published

2019-02-28

How to Cite

1.
Rocha AP, Borges M, Neves C, Farela Neves J. H Factor Deficiency: A Case with an Atypical Presentation. Acta Med Port [Internet]. 2019 Feb. 28 [cited 2024 Nov. 22];32(2):158-61. Available from: https://actamedicaportuguesa.com/revista/index.php/amp/article/view/10301

Issue

Vol. 32 No. 2 (2019): February

Section

Case Report

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