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DEAP-HUS:CFHR 血浆蛋白缺乏和溶血尿毒综合征的自身抗体阳性形式。

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

机构信息

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

出版信息

Pediatr Nephrol. 2010 Oct;25(10):2009-19. doi: 10.1007/s00467-010-1446-9. Epub 2010 Feb 16.

DOI:10.1007/s00467-010-1446-9
PMID:20157737
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.

摘要

DEAP-HUS(补体因子 H 相关蛋白缺乏和溶血尿毒综合征自身抗体阳性)是一种新型溶血尿毒综合征(HUS)亚型,具有独特的特征。它影响儿童,在诊断和治疗方面需要特别注意。DEAP-HUS 和其他非典型形式的 HUS 具有共同的特征,如微血管性溶血性贫血、急性肾衰竭和血小板减少症。然而,DEAP-HUS 具有独特的组合,即自身抗体形式的获得性因子对补体抑制剂因子 H 和遗传因子的组合,在大多数情况下,是人类 1 号染色体上 84-kbp 片段的缺失,导致血浆中缺乏 CFHR1 和 CFHR3 蛋白。需要特别注意诊断和治疗 DEAP-HUS 患者。大多数患者对降低自身抗体滴度的反应良好,方法是血浆治疗、类固醇治疗和/或免疫抑制。此外,对于那些患有终末期肾病的 DEAP-HUS 患者,在移植前降低自身抗体滴度有望通过在血管内皮细胞表面实现完全补体控制来预防移植后疾病复发,从而最大限度地减少补体和免疫反应的不良反应。

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