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.
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We thank Jacques Blouin, Nelly Poulain, and Christine Hautreux for their technical assistance.
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Sethi, S.K., Marie-Agnes, DD., Thaker, N. et al. Hemolytic uremic syndrome due to homozygous factor H deficiency. Clin Exp Nephrol 13, 526–530 (2009). https://doi.org/10.1007/s10157-009-0205-3
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DOI: https://doi.org/10.1007/s10157-009-0205-3