Fattah Hasan, Kumar Dhiren, George James N, Massey H Davis, King Anne L, Friedman Kenneth D, Gupta Gaurav
Division of Nephrology, Richmond, Virginia.
Departments of Epidemiology & Biostatistics and Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma.
Transfusion. 2017 Dec;57(12):3058-3062. doi: 10.1111/trf.14326. Epub 2017 Sep 20.
Congenital thrombotic thrombocytopenic purpura (TTP) may not be recognized until organ failure related to the microvascular thrombosis occurs. Kidney failure may be the initial presenting clinical feature. Kidney transplantation has been contraindicated because of the assumption that the continuing microvascular thrombosis will cause inevitable graft failure.
We report a 48-year-old nulliparous woman who presented with end-stage kidney disease that was attributed to hypertension. Her past history included a thromboembolic stroke at age 32, for which she was placed on permanent anticoagulation. Immediately after living unrelated-donor kidney transplant, she developed severe hemolysis and acute decline in urine output for which she received red blood cell and platelet transfusions and an infusion of eculizumab (1200 mg). She promptly responded and was discharged on her fifth postoperative day with a serum creatinine level of 1.0 mg/dL. Two weeks later, thrombocytopenia and hemolysis recurred. By this time, undetectable ADAMTS13 activity (<5%) with no demonstrable inhibitor had been reported. She responded rapidly to plasma infusions. Genetic analysis confirmed the diagnosis of congenital TTP, documenting known pathogenic mutations in each of the ADAMTS13 genes. She continued to receive twice-monthly infusions for 4 months. Surveillance kidney biopsies at 6 and 12 months posttransplant demonstrated no evidence of thrombotic microangiopathy or graft rejection. After 2 years of follow-up her creatinine remains stable at 1.0 mg/dL (estimated glomerular filtration rate, 65 mL/min/1.73 m ).
Our experience suggests that kidney transplantation may be an appropriate management for carefully selected patients with congenital TTP who develop end-stage renal disease.
先天性血栓性血小板减少性紫癜（TTP）可能直到与微血管血栓形成相关的器官衰竭发生时才被识别。肾衰竭可能是最初出现的临床特征。由于认为持续的微血管血栓形成将不可避免地导致移植失败，肾移植一直被视为禁忌。
我们报告一名48岁未生育女性，因高血压导致终末期肾病。她既往有32岁时的血栓栓塞性中风病史，为此接受了长期抗凝治疗。在接受非亲属活体供肾移植后，她立即出现严重溶血和尿量急性减少，为此接受了红细胞和血小板输注以及依库珠单抗（1200mg）输注。她迅速出现反应，并在术后第5天出院，血清肌酐水平为1.0mg/dL。两周后，血小板减少和溶血复发。此时，已报告ADAMTS13活性检测不到（<5%）且无明显抑制剂。她对血浆输注迅速出现反应。基因分析证实了先天性TTP的诊断，记录了每个ADAMTS13基因中的已知致病突变。她继续接受了4个月的每月两次输注。移植后6个月和12个月的监测肾活检未显示血栓性微血管病或移植排斥的证据。经过2年的随访，她的肌酐保持稳定在1.0mg/dL（估计肾小球滤过率，65mL/min/1.73m²）。
我们的经验表明，对于精心挑选的患有先天性TTP并发展为终末期肾病的患者，肾移植可能是一种合适的治疗方法。
