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CFH gene mutation in a case of Shiga toxin-associated hemolytic uremic syndrome (STEC-HUS)

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Abstract

Background

We report the case of a patient with Shiga toxin (Stx)-associated hemolytic-uremic syndrome (HUS) (STEC-HUS) with a concomitant heterozygous mutation of the gene coding for complement Factor H (CFH).

Case diagnosis/treatment

An 18-month-old patient presented with hemolytic anemia and thrombotic microangiopathy in the context of acute gastroenteritis. While the patient did not show kidney or other organ failure, he had persistent hemolysis and complement 3 activation (low C3), leading to the decision to commence immunotherapy with eculizumab (Soliris®) together with transient antibiotic coverage and meningococcal vaccination. Patient outcome was favorable. Diagnostic work-up identified Escherichia coli-associated Type 2 Shiga toxin. Complement analysis showed a heterozygous mutation of the CFH gene (c.2103 G>A, p. Trp701X) resulting in a quantitative CFH defect.

Conclusions

We report a case of STEC-HUS with a quantitative CFH defect caused by a mutation of the CFH gene. To the best of our knowledge, very few cases of STEC-HUS with complement gene mutation have been reported, but none to date with a CFH mutation. We therefore suggest that complement analyses be performed in patients diagnosed with STEC-HUS in association with low C3 levels, especially in patients presenting with severe or unexpected clinical symptoms.

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Conflict of interest

The authors declare they have no conflict of interest.

Author information

Authors and Affiliations

  1. Service de Pédiatrie 1, Centre Hospitalier Universitaire de Strasbourg, Avenue Molière, 67098, Strasbourg Cedex, France

    Caroline Caillaud, Ariane Zaloszyc & Michel Fischbach

  2. Hospital for Sick Children, Toronto, ON, Canada

    Christoph Licht

  3. Service de Pédiatrie, Centre Hospitalier de Mulhouse, Mulhouse, France

    Valérie Pichault

  4. Service d’Immunologie Biologique, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges-Pompidou, Paris, France

    Véronique Frémeaux-Bacchi

Authors
  1. Caroline Caillaud
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  2. Ariane Zaloszyc
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  3. Christoph Licht
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  4. Valérie Pichault
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  5. Véronique Frémeaux-Bacchi
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  6. Michel Fischbach
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Correspondence to Caroline Caillaud.

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Caillaud, C., Zaloszyc, A., Licht, C. et al. CFH gene mutation in a case of Shiga toxin-associated hemolytic uremic syndrome (STEC-HUS). Pediatr Nephrol 31, 157–161 (2016). https://doi.org/10.1007/s00467-015-3207-2

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  • DOI: https://doi.org/10.1007/s00467-015-3207-2

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