Cruzado J M, de Córdoba S Rodríguez, Melilli E, Bestard O, Rama I, Sánchez-Corral P, López-Trascasa M, Navarro I, Torras J, Gomà M, Grinyó J M
Servei de Nefrologia, Hospital Universitari de Bellvitge, IDIBELL, L'Hospitalet de Llobregat, Barcelona, Spain.
Am J Transplant. 2009 Jun;9(6):1477-83. doi: 10.1111/j.1600-6143.2009.02647.x. Epub 2009 May 20.
Kidney transplantation in patients with atypical hemolytic uremic syndrome (aHUS) carrying mutations in the soluble complement regulators factor H (CFH) or factor I (CFI) is associated with elevated risk of disease recurrence and almost certain graft loss. In contrast, recurrence is unusual in patients with mutations in the membrane-associated complement regulator membrane cofactor protein (MCP) (CD46). Therefore, a panel of experts recently recommended the combined liver-kidney transplantation to minimize aHUS recurrence in patients with mutations in CFH or CFI. There was, however, very limited information regarding transplantation in patients carrying mutations in both soluble and membrane-associated complement regulators to support a recommendation. Here, we report the case of an aHUS patient with a heterozygous mutation in both CFI and MCP who received an isolated kidney transplant expressing normal MCP levels. Critically, the patient suffered from a severe antibody-mediated rejection that was successfully treated with plasmapheresis and IvIgG. Most important, despite the complement activation in the allograft, there was no evidence of thrombotic microangiopathy, suggesting that the normal MCP levels in the grafted kidney were sufficient to prevent the aHUS recurrence. Our results suggest that isolated kidney transplantation may be a good first option for care in aHUS patients carrying CFI/MCP combined heterozygous mutations.
在携带可溶性补体调节因子H（CFH）或因子I（CFI）突变的非典型溶血性尿毒症综合征（aHUS）患者中进行肾移植，疾病复发风险升高，移植肾几乎肯定会丧失。相比之下，携带膜相关补体调节因子膜辅因子蛋白（MCP，即CD46）突变的患者复发情况不常见。因此，一个专家小组最近建议进行肝肾联合移植，以将CFH或CFI突变患者的aHUS复发风险降至最低。然而，关于携带可溶性和膜相关补体调节因子突变患者移植的信息非常有限，无法支持这一建议。在此，我们报告一例CFI和MCP均存在杂合突变的aHUS患者，该患者接受了表达正常MCP水平的孤立肾移植。关键的是，患者发生了严重的抗体介导排斥反应，通过血浆置换和静脉注射免疫球蛋白G成功治疗。最重要的是，尽管移植肾存在补体激活，但没有血栓性微血管病的证据，这表明移植肾中正常的MCP水平足以预防aHUS复发。我们的结果表明，对于携带CFI/MCP复合杂合突变的aHUS患者，孤立肾移植可能是一个很好的初始治疗选择。
