Imperial College, Centre for Complement and Inflammation Research, London, UK.
Nephrol Dial Transplant. 2012 Jul;27(7):2673-85. doi: 10.1093/ndt/gfs279.
Thrombotic microangiopathy (TMA) is a pathological process involving thrombocytopenia, microangiopathic haemolytic anaemia and microvascular occlusion. TMA is common to haemolytic uraemic syndrome (HUS) associated with shiga toxin or invasive pneumococcal infection, atypical HUS (aHUS), thrombotic thrombocytopenic purpura (TTP) and other disorders including malignant hypertension. HUS complicating infection with shiga toxin-producing Escherichia coli (STEC) is a significant cause of acute renal failure in children worldwide, occurring sporadically or in epidemics. Studies in aHUS have revealed genetic and acquired factors leading to dysregulation of the alternative complement pathway. TTP has been linked to reduced activity of the ADAMTS13 cleaving protease (typically with an autoantibody to ADAMTS13) with consequent disruption of von Willebrand factor multimer processing. However, the convergence of pathogenic pathways and clinical overlap create diagnostic uncertainty, especially at initial presentation. Furthermore, recent developments are challenging established management protocols. This review addresses the current understanding of molecular mechanisms underlying TMA, relating these to clinical presentation with an emphasis on renal manifestations. A diagnostic and therapeutic approach is presented, based on international guidelines, disease registries and published trials. Early treatment remains largely empirical, consisting of plasma replacement/exchange with the exception of childhood STEC-HUS or pneumococcal sepsis. Emerging therapies such as the complement C5 inhibitor eculizumab for aHUS and rituximab for TTP are discussed, as is renal transplantation for those patients who become dialysis-dependent as a result of aHUS.
血栓性微血管病(TMA)是一种涉及血小板减少、微血管性溶血性贫血和微血管阻塞的病理过程。TMA 常见于与志贺毒素或侵袭性肺炎球菌感染相关的溶血性尿毒症综合征(HUS)、非典型 HUS(aHUS)、血栓性血小板减少性紫癜(TTP)和其他疾病,包括恶性高血压。产志贺毒素大肠杆菌(STEC)感染引起的 HUS 是全世界儿童急性肾衰竭的重要原因,可散发或流行。aHUS 的研究揭示了导致替代补体途径失调的遗传和获得性因素。TTP 与 ADAMTS13 裂解蛋白酶活性降低有关(通常与 ADAMTS13 自身抗体相关),导致血管性血友病因子多聚体加工中断。然而,致病途径的趋同和临床重叠造成了诊断的不确定性,尤其是在初始表现时。此外,最近的发展正在挑战既定的管理方案。这篇综述探讨了 TMA 潜在分子机制的最新认识,将这些机制与临床表现联系起来,重点关注肾脏表现。根据国际指南、疾病登记和已发表的试验,提出了一种诊断和治疗方法。除了儿童 STEC-HUS 或肺炎球菌败血症外,早期治疗在很大程度上仍然是经验性的,包括血浆置换/交换。讨论了针对 aHUS 的补体 C5 抑制剂依库珠单抗和针对 TTP 的利妥昔单抗等新兴疗法,以及因 aHUS 而成为透析依赖的患者的肾移植。