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- Title
Hemolytic uremic syndrome due to homozygous factor H deficiency.
- Authors
Sethi, Sidharth Kumar; Marie-Agnes, Dragon-Durey; Thaker, Neelam; Hari, Pankaj; Bagga, Arvind
- 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.
- Publication
Clinical and experimental nephrology, 2009, Vol 13, Issue 5, p526
- ISSN
1437-7799
- Publication type
Journal Article
- DOI
10.1007/s10157-009-0205-3