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Semin Thromb Hemost. 2010 Sep;36(6):625-32. doi: 10.1055/s-0030-1262884. Epub 2010 Sep 23.

The autoimmune disease DEAP-hemolytic uremic syndrome.

Author information

1
Department of Infection Biology, Leibniz Institute for Natural Product Research and Infection Biology, Jena, Germany. christine.skerka@hki-jena.de

Abstract

DEAP-HUS (deficiency of CFHR plasma proteins and factor H [FH] autoantibody positive hemolytic uremic syndrome [HUS]) is a new form of HUS characterized by a deletion of genes coding for FH-related proteins and the presence of autoantibodies directed to FH. These disease-associated autoantibodies inhibit FH (CFH) surface binding functions, which results in a defective regulation of the alternative pathway and damage of endothelial cells. Here we describe two representative patients with DEAP-HUS who both developed end-stage renal failure with the background of homozygous deletion of CFHR1 and CFHR3 genes and the presence of FH autoantibodies. Based on the retrospective diagnosis of DEAP-HUS 2 to 12 months after the initial clinical presentation, subsequent immunosuppressive therapy was initiated. The autoantibody titers decreased, and the complement status of the patients improved, as indicated by increased C3 levels. Thus early diagnosis of DEAP-HUS and immunosuppressive treatments are important factors to treat this particular type of HUS.

PMID:
20865639
DOI:
10.1055/s-0030-1262884
[Indexed for MEDLINE]

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