Department of Internal Medicine, University of Iowa, Iowa City, IA, USA.
Hematology Am Soc Hematol Educ Program. 2012;2012:617-25. doi: 10.1182/asheducation-2012.1.617.
Atypical hemolytic uremic syndrome (aHUS) is a rare syndrome of hemolysis, thrombocytopenia, and renal insufficiency. Genetic mutations in the alternate pathway of complement are well recognized as the cause in more than 60% of patients affected by this thrombotic microangiopathy. The identification of aHUS as a disease of the alternate pathway of complement enables directed therapeutic intervention both in the acute and chronic setting and may include one or all of the following: plasma therapy, complement blockade, and liver transplantation. Because aHUS shares many of the presenting characteristics of the other thrombotic microangiopathies, and confirmatory genetic results are not available at the time of presentation, the diagnosis relies heavily on the recognition of a clinical syndrome consistent with the diagnosis in the absence of signs of an alternate cause of thrombotic microangiopathy. Limited understanding of the epidemiology, genetics, and clinical features of aHUS has the potential to delay diagnosis and treatment. To advance our understanding, a more complete characterization of the unique phenotypical features of aHUS is needed. Further studies to identify additional genetic loci for aHUS and more robust biomarkers of both active and quiescent disease are required. Advances in these areas will undoubtedly improve the care of patients with aHUS.
非典型溶血性尿毒症综合征（aHUS）是一种罕见的溶血性、血小板减少性和肾功能不全综合征。补体旁路的遗传突变被认为是超过 60%受这种血栓性微血管病影响的患者的病因。将 aHUS 确定为补体旁路的疾病，使得在急性和慢性环境中都能够进行有针对性的治疗干预，并且可能包括以下一种或全部：血浆治疗、补体阻断和肝移植。由于 aHUS 与其他血栓性微血管病具有许多相似的临床表现特征，并且在出现时无法获得明确的遗传结果，因此诊断主要依赖于在没有血栓性微血管病替代原因迹象的情况下，识别与诊断相符的临床综合征。对 aHUS 的流行病学、遗传学和临床特征的认识有限，可能会导致诊断和治疗的延迟。为了深入了解，需要对 aHUS 的独特表型特征进行更全面的描述。需要进一步研究以确定 aHUS 的其他遗传位点，并找到更有效的活性和静止疾病的生物标志物。这些领域的进展无疑将改善 aHUS 患者的护理。
