Clinical and Experimental Nephrology

, Volume 13, Issue 5, pp 526–530 | Cite as

Hemolytic uremic syndrome due to homozygous factor H deficiency

  • Sidharth Kumar Sethi
  • Dragon-Durey Marie-Agnes
  • Neelam Thaker
  • Pankaj Hari
  • Arvind Bagga
Case Report

Abstract

The majority of complement factor H mutations associated with atypical hemolytic uremic syndrome (HUS) are heterozygous. Homozygous mutations causing atypical hemolytic uremic syndrome are rare. We report a 7-month-old boy with HUS, severe hypocomplementemia (low C3 and normal C4 levels), and extremely low circulating levels of factor H. Genetic analysis showed homozygous 4 bp deletion in the gene encoding factor H in the patient, with his parents being carriers. The patient showed progression to end-stage renal disease and is presently on chronic ambulatory peritoneal dialysis.

Keywords

Factor H Hemolytic uremic syndrome Homozygous factor H deficiency Thrombotic microangiopathy 

Notes

Acknowledgments

We thank Jacques Blouin, Nelly Poulain, and Christine Hautreux for their technical assistance.

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Copyright information

© Japanese Society of Nephrology 2009

Authors and Affiliations

  • Sidharth Kumar Sethi
    • 1
  • Dragon-Durey Marie-Agnes
    • 2
  • Neelam Thaker
    • 1
  • Pankaj Hari
    • 1
  • Arvind Bagga
    • 1
  1. 1.Division of Pediatric Nephrology, Department of PediatricsAll India Institute of Medical SciencesNew DelhiIndia
  2. 2.Laboratoire d’Immunologie, Hôpital Européen Georges PompidouUniversité Paris DescartesParisFrance

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