The autoimmune disease DEAP-hemolytic uremic syndrome.
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.
Skerka
Christine
C
Department of Infection Biology, Leibniz Institute for Natural Product Research and Infection Biology, Jena, Germany. christine.skerka@hki-jena.de
Zipfel
Peter F
PF
Müller
Dominik
D
Micklisch
Sven
S
Riedl
Magdalena
M
Zimmerhackl
Lothar-Bernd
LB
Hofer
Johannes
J
D058846:Antibodies, Monoclonal, Murine-Derived / Q000627:therapeutic use; D001323:Autoantibodies / Q000097:blood / Q000276:immunology*; D001798:Blood Proteins / Q000235:genetics; D002648:Child; D003180:Complement C3b Inactivator Proteins / Q000235:genetics; D017242:Complement Factor H / Q000276:immunology*; D017353:Gene Deletion; D006463:Hemolytic-Uremic Syndrome / Q000235:genetics / Q000276:immunology* / Q000628:therapy; D006801:Humans; D007155:Immunologic Factors / Q000627:therapeutic use; D007676:Kidney Failure, Chronic / Q000276:immunology / Q000628:therapy; D008297:Male; D010530:Peritoneal Dialysis; D010951:Plasma Exchange; D006435:Renal Dialysis; D000069283:Rituximab
D058846:Antibodies, Monoclonal, Murine-Derived; D001323:Autoantibodies; D001798:Blood Proteins; C517621:CFHR1 protein, human; C105970:CFHR3 protein, human; D003180:Complement C3b Inactivator Proteins; D007155:Immunologic Factors; D000069283:Rituximab; D017242:Complement Factor H