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DEAP-HUS: Deficiency of CFHR plasma proteins and autoantibody-positive form of hemolytic uremic syndrome

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Abstract

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.

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Acknowledgments

We thank the patients and their family members for support and help. The work of the authors is funded by the Deutsche Forschungsgemeinschaft (Zi432 and Sk46), the Heart and Stroke Foundation of Ontario (HSFO; CL), and the American Society of Nephrology (ASN; CL).

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Authors and Affiliations

  1. Department of Infection Biology, Leibniz Institute for Natural Product Research and Infection Biology, Beutenbergst. 11a, 07745, Jena, Germany

    Peter F. Zipfel & Christine Skerka

  2. Friedrich-Schiller-University, Jena, Germany

    Peter F. Zipfel

  3. Department of Pediatrics, Medical University Graz, Auenbruggerplatz 30, 8036, Graz, Austria

    Christoph Mache

  4. Department of Pediatric Nephrology, Charité University Hospital, Augustenburger Platz 1, 13353, Berlin, Germany

    Dominik Müller

  5. Division of Nephrology, The Hospital for Sick Children–University of Toronto, Toronto, ON, Canada

    Christoph Licht

  6. Department of Pediatrics, University of Rostock, Rostock, Germany

    Marianne Wigger

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  1. Peter F. Zipfel
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for the European DEAP-HUS Study Group

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Correspondence to Peter F. Zipfel.

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Zipfel, P.F., Mache, C., Müller, D. et al. DEAP-HUS: Deficiency of CFHR plasma proteins and autoantibody-positive form of hemolytic uremic syndrome. Pediatr Nephrol 25, 2009–2019 (2010). https://doi.org/10.1007/s00467-010-1446-9

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