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aHUS associated with C3 gene mutation: a case with numerous relapses and favorable 20-year outcome

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Abstract

Background

Atypical hemolytic uremic syndrome (aHUS) is frequently associated with gene mutations in complement-regulatory proteins and activators. Different complement C3 gene mutations have been associated with different outcomes in aHUS.

Case-Diagnosis/Treatment

We report the case of a 21-year-old male with a C3 heterozygous gene mutation (p.Ile1157Thr) who developed aHUS at the age of 10 months and had six relapses, the last at the age of 14.5 years. Each relapse was characterized by an apparent predominance of hematological manifestations with milder renal involvement and was followed by complete recovery, with creatinine values and hematological parameters usually recovering after the 3rd to 6th day of hospitalization. The patient was treated with plasma infusion, apart from the initial and the last episode, when dialysis was needed. Twenty years after the onset, he retains normal renal function, with no proteinuria or hypertension. One similar case of highly recurrent aHUS carrying the same C3 mutation as our patient with recovery of renal function has been previously reported.

Conclusions

We further support that aHUS associated with the p.Ile1157Thr C3 mutation may be highly recurrent, but with recovered renal function. The prevalent p.Ile1157Thr C3 gene mutation has variable disease manifestations and both severe and milder renal phenotypes have been found.

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Abbreviations

aHUS:

Atypical hemolytic uremic syndrome

FH:

Factor H

FI:

Factor I

MCP:

Membrane cofactor protein

FB:

Factor B

ESRD:

End-stage renal disease

CFHR:

Complement factor H-related proteins

FFP:

Fresh frozen plasma

RBC:

Red blood cell

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Authors and Affiliations

  1. Department of Pediatrics, Ioannina University Hospital, Stavros Niarchos Avenue, GR-45 500, Ioannina, Greece

    Ekaterini Siomou, Athanasios Gkoutsias, Anastasios Serbis & Nikolaos Chaliasos

  2. Third Department of Pediatrics, Aristotle University School of Medicine, Thessaloniki, Greece

    Konstantinos Kollios

  3. Service d’Immunologie Biologique Hôpital Européen Georges Pompidou, Paris, France

    Veronique Frémeaux-Bacchi

Authors
  1. Ekaterini Siomou
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  2. Athanasios Gkoutsias
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  3. Anastasios Serbis
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  4. Konstantinos Kollios
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  5. Nikolaos Chaliasos
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  6. Veronique Frémeaux-Bacchi
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Corresponding author

Correspondence to Ekaterini Siomou.

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Conflict of interest

VFB has received fees from Alexion Pharmaceuticals for invited lectures and is member of an expert board supported by Alexion Pharmaceuticals.

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Siomou, E., Gkoutsias, A., Serbis, A. et al. aHUS associated with C3 gene mutation: a case with numerous relapses and favorable 20-year outcome. Pediatr Nephrol 31, 513–517 (2016). https://doi.org/10.1007/s00467-015-3267-3

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  • DOI: https://doi.org/10.1007/s00467-015-3267-3

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