DEAP-HUS: deficiency of CFHR plasma proteins and autoantibody-positive form of hemolytic uremic syndrome.
DEAP-HUS [Deficiency of CFHR (complement factor H-related) plasma proteins and Autoantibody Positive form of Hemolytic Uremic Syndrome] represents a novel subtype of hemolytic uremic syndrome (HUS) with unique characteristics. It affects children and requires special clinical attention in terms of diagnosis and therapy. DEAP-HUS and other atypical forms of HUS share common features, such as microangiopathic hemolytic anemia, acute renal failure, and thrombocytopenia. However, DEAP-HUS has the unique combination of an acquired factor in the form of autoantibodies to the complement inhibitor Factor H and a genetic factor which, in most cases, is the chromosomal deletion of a 84-kbp fragment within human chromosome 1 that results in the absence of the CFHR1 and CFHR3 proteins in plasma. Special attention is required to diagnose and treat DEAP-HUS patients. Most patients show a favorable response to the reduction of autoantibody titers by either plasma therapy, steroid treatment, and/or immunosuppression. In addition, in those DEAP-HUS patients with end-stage renal disease, the reduction of autoantibody titers prior to transplantation is expected to prevent post-transplant disease recurrence by aiming for full complement control at the endothelial cell surface in order to minimize adverse complement and immune reactions.
Department of Infection Biology, Leibniz Institute for Natural Product Research and Infection Biology, Beutenbergst. 11a, 07745, Jena, Germany. peter.zipfel@hki-jena.de
Peter F
PF
Zipfel
Christoph
C
Mache
Dominik
D
Müller
Christoph
C
Licht
Marianne
M
Wigger
Christine
C
Skerka
D001323:Autoantibodies / Q000097:blood / Q000276:immunology*; D001324:Autoantigens / Q000276:immunology; D001798:Blood Proteins / Q000172:deficiency; D002648:Child; D003180:Complement C3b Inactivator Proteins / Q000172:deficiency; D017242:Complement Factor H / Q000276:immunology*; D006463:Hemolytic-Uremic Syndrome; D006801:Humans
D001323:Autoantibodies; D001324:Autoantigens; D001798:Blood Proteins; C517621:CFHR1 protein, human; C105970:CFHR3 protein, human; D003180:Complement C3b Inactivator Proteins; D017242:Complement Factor H