Albertazzi V, Bonucchi D, De Amicis S, Americo C, Ghiandai G, Cappelli G
Nephrology Dialysis and Renal Transplantation, Policlinico Hospital, Modena, Italy.
Transplant Proc. 2010 May;42(4):1352-4. doi: 10.1016/j.transproceed.2010.03.048.
Complement factor H (CFH)-associated hemolytic uremic syndrome (HUS) is a genetic form of atypical HUS characterized by deficient CFH levels or activity, which cause a disorder of the regulation of the alternative pathway, leading to uncontrolled complement activation. This genetic disorder, which frequently leads to end-stage renal failure, often recurs in kidney transplants, resulting in the poorest graft outcomes among all atypical HUS forms, due to a mutation in genes encoding complement components and regulatory proteins. Herein we have report our experience with a 40-year-old woman, suffering from a clearly defined sporadic form of genetic atypical HUS, consisting of a heterozygous missense mutation in factor H gene. She underwent cadaveric kidney transplantation. At the moment of surgery she displayed positive hemolysis indices and C3 consumption. A calcineurin inhibitor (CNI)-free immunosuppressive regimen was based on sirolimus, mycophenolic acid and steroids after basiliximab induction. An early and intense prophylactic course of plasma exchange (PE), and fresh frozen plasma (40 mL/kg) was prescribed, starting before surgery and continuing daily for the first week. The frequency of PE slowly reduced over the following 2 weeks. After that, just plasma infusion at the same dose was performed once a week until 12 weeks after transplantation. There was prompt graft function and in third week there were no signs of hemolysis or of C3 consumption. More than 3 years after transplantation, the graft is still functioning well and there was no recurrence. In our opinion, this case indicates that, although evidence is lacking, avoidance of CNI and intensive prophylactic plasma therapy are essential to achieve good results in this peculiar type of kidney transplantation. Nevertheless, controlled, prospective studies are necessary to establish the actual role of these two therapeutic procedures in renal transplantation of patients with CFH-associated HUS.
补体因子H（CFH）相关溶血性尿毒症综合征（HUS）是一种非典型HUS的遗传形式，其特征是CFH水平或活性不足，这会导致替代途径调节紊乱，进而导致补体不受控制地激活。这种遗传疾病常导致终末期肾衰竭，在肾移植中常复发，由于编码补体成分和调节蛋白的基因突变，在所有非典型HUS形式中移植结果最差。在此，我们报告了一名40岁女性的病例，她患有明确的散发性遗传非典型HUS，其因子H基因存在杂合错义突变。她接受了尸体肾移植。手术时她的溶血指标呈阳性且C3消耗增加。诱导使用巴利昔单抗后，无钙调神经磷酸酶抑制剂（CNI）的免疫抑制方案基于西罗莫司、霉酚酸和类固醇。在手术前开始并在第一周每天持续进行早期强化血浆置换（PE）和新鲜冰冻血浆（40 mL/kg）预防性治疗。在接下来的2周内，PE的频率逐渐降低。此后，每周仅以相同剂量输注一次血浆，直至移植后12周。移植肾功能迅速恢复，第三周时无溶血或C3消耗的迹象。移植后3年多，移植肾仍功能良好且无复发。我们认为，该病例表明，尽管缺乏证据，但避免使用CNI和强化预防性血浆治疗对于在这种特殊类型的肾移植中取得良好效果至关重要。然而，需要进行对照的前瞻性研究来确定这两种治疗方法在CFH相关HUS患者肾移植中的实际作用。
