Document Detail

The autoimmune disease DEAP-hemolytic uremic syndrome.
MedLine Citation:
PMID:  20865639     Owner:  NLM     Status:  In-Process    
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.
Christine Skerka; Peter F Zipfel; Dominik Müller; Sven Micklisch; Magdalena Riedl; Lothar-Bernd Zimmerhackl; Johannes Hofer
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Publication Detail:
Type:  Journal Article     Date:  2010-09-23
Journal Detail:
Title:  Seminars in thrombosis and hemostasis     Volume:  36     ISSN:  1098-9064     ISO Abbreviation:  Semin. Thromb. Hemost.     Publication Date:  2010 Sep 
Date Detail:
Created Date:  2010-09-24     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0431155     Medline TA:  Semin Thromb Hemost     Country:  United States    
Other Details:
Languages:  eng     Pagination:  625-32     Citation Subset:  IM    
Copyright Information:
© Thieme Medical Publishers.
Department of Infection Biology, Leibniz Institute for Natural Product Research and Infection Biology, Jena, Germany.
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