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.
Zipfel
Peter F
PF
Department of Infection Biology, Leibniz Institute for Natural Product Research and Infection Biology, Beutenbergst. 11a, 07745, Jena, Germany. peter.zipfel@hki-jena.de
Mache
Christoph
C
Müller
Dominik
D
Licht
Christoph
C
Wigger
Marianne
M
Skerka
Christine
C
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