Torres Everardo Arias, Chang Yongen, Desai Sheetal, Chang Ian, Zuckerman Jonathan E, Burwick Richard, Kalantar-Zadeh Kamyar, Hanna Ramy M
Department of Medicine, University of California, Irvine, California, USA.
Division of Nephrology, Hypertension and Kidney Transplantation, Department of Medicine, University of California, Irvine, California, USA.
Case Rep Nephrol Dial. 2021 Mar 31;11(1):95-102. doi: 10.1159/000512227. eCollection 2021 Jan-Apr.
Thrombotic microangiopathies (TMAs) involve multiple organ systems due to the presence of microangiopathic hemolysis. One such condition, atypical hemolytic uremic syndrome (aHUS), is a complement-mediated process that is part of a spectrum of disorders that have underlying complement dysfunction of the alternative pathway due to overactivity or decreased self-nonself discrimination by innate immunity. Complement-amplifying conditions such as pregnancy may unmask a diagnosis of aHUS. We present an important case of a pregnant 23-year-old Hispanic female who presented in mid-gestation (21 weeks) with an initial diagnosis of systemic lupus erythematosus (SLE) complicated by aHUS. She met clinical criteria for aHUS on presentation and was found to have a pathogenic CFHR1-3 homozygous deletion. She has been treated with intravenous and oral steroids, cyclophosphamide, subsequently also with plasma exchange, and finally with eculizumab with partial improvement in renal function. This case adds to the emerging literature showing that SLE and aHUS (or complement-mediated TMA) can be successfully treated with C5 blockade.
血栓性微血管病（TMAs）由于微血管病性溶血的存在而累及多个器官系统。其中一种情况，非典型溶血性尿毒症综合征（aHUS），是一种补体介导的过程，是一系列疾病的一部分，这些疾病由于先天免疫过度活跃或自我与非自我识别能力下降而存在替代途径的潜在补体功能障碍。妊娠等补体增强情况可能会揭示aHUS的诊断。我们报告了一例重要病例，一名23岁的西班牙裔孕妇，在妊娠中期（21周）就诊，最初诊断为系统性红斑狼疮（SLE）合并aHUS。她就诊时符合aHUS的临床标准，并且被发现有致病性CFHR1-3纯合缺失。她接受了静脉和口服类固醇、环磷酰胺治疗，随后还进行了血浆置换，最后使用依库珠单抗治疗，肾功能有部分改善。该病例补充了新出现的文献，表明SLE和aHUS（或补体介导的TMA）可以通过C5阻断成功治疗。
