Choo Shi Zhou, Brown Fiona
Department of Nephrology, Monash Health, Australia.
Nephrology (Carlton). 2017 Feb;22 Suppl 1:4-6. doi: 10.1111/nep.12931.
A 25-year-old man presented with microangiopathic haemolytic anaemia and acute kidney injury. With a normal ADAMTS-13 level, negative faecal shiga-toxin test and strong family history of atypical haemolytic uremic syndrome, he was commenced on eculizumab to good clinical response. Subsequent genetic testing revealed a heterozygous complement factor H mutation. Eculizumab was discontinued after 44 months of treatment, and he relapsed within 6 months, with the first sign being downtrending haptoglobin levels, with no other markers of haemolysis or thrombocytopaenia, 5 weeks prior to development of acute kidney injury. He was recommenced on eculizumab and to date still remains on it. This case highlights the unusual pattern of relapse and discusses the considerations for eculizumab discontinuation in patients with stable atypical haemolytic uremic syndrome receiving maintenance therapy.
一名25岁男性出现微血管病性溶血性贫血和急性肾损伤。其ADAMTS-13水平正常，粪便志贺毒素检测呈阴性，且有非典型溶血尿毒综合征的家族史，遂开始使用依库珠单抗治疗，临床反应良好。随后的基因检测发现了杂合性补体因子H突变。治疗44个月后停用依库珠单抗，6个月内复发，急性肾损伤发生前5周，第一个迹象是触珠蛋白水平下降，无其他溶血或血小板减少的标志物。他再次开始使用依库珠单抗，至今仍在使用。本病例突出了复发的不寻常模式，并讨论了接受维持治疗的稳定型非典型溶血尿毒综合征患者停用依库珠单抗的注意事项。
