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Semin Thromb Hemost 2010; 36(6): 625-632
DOI: 10.1055/s-0030-1262884
© Thieme Medical Publishers

The Autoimmune Disease DEAP-Hemolytic Uremic Syndrome

Christine Skerka1 , Peter F. Zipfel1 , 2 , Dominik Müller3 , Sven Micklisch1 , Magdalena Riedl1 , 4 , Lothar-Bernd Zimmerhackl4 , Johannes Hofer2 , 4
  • 1Department of Infection Biology, Leibniz Institute for Natural Product Research and Infection Biology, Jena, Germany
  • 2Department of Pediatric Nephrology, Charité, Berlin, Germany
  • 3Friedrich Schiller University, Jena, Germany
  • 4Department of Pediatrics I, Medical University Innsbruck, Austria
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Publication History

Publication Date:
23 September 2010 (online)

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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.

KEYWORDS

Autoantibodies - DEAP-HUS - CFHR1 - CFHR3

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Christine SkerkaPh.D. 

Department of Infection Biology, Leibniz Institute for Natural Product Research and Infection Biology - Hans Knöll, Institute - Beutenbergstrasse 11

D-07745, Jena, Germany

Email: christine.skerka@hki-jena.de

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