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基因变异筛查对于确定复发性非典型溶血性尿毒症综合征导致肾移植失败后的再次移植的重要性。

The importance of genetic mutation screening to determine retransplantation following failed kidney allograft from recurrent atypical haemolytic ureamic syndrome.

作者信息

Chua Samantha, Wong Germaine, Lim Wai Hon

机构信息

Department of Renal Medicine, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.

出版信息

BMJ Case Rep. 2014 Mar 26;2014:bcr2013202875. doi: 10.1136/bcr-2013-202875.

Abstract

We report the case of a patient with familial atypical haemolytic uraemic syndrome (aHUS) who underwent successful retransplantation 30 months following his failed first kidney allograft from recurrent aHUS. He achieved excellent graft function (creatinine 90 μmol/L), with no evidence of disease recurrence on standard maintenance immunosuppression 9 months after his second deceased donor kidney transplantation. Genetic mutation testing was not available prior to first transplant but screening prior to retransplant identified the patient as having a newly discovered mutation, c.T3566A, within exon 23 of the complement factor H (CFH) gene. Currently, public financing and subsidisation for eculizumab, a costly but effect complement (C5) inhibitor for the treatment of aHUS is not available in Australia. The decision for retransplantation must balance between the risk of disease recurrence and greater risk of death on dialysis. The absence of a more severe CFH genotype assisted in the decision for retransplantation and suggests the importance of genetic mutation screening in order to stratify the risk of disease recurrence and graft loss versus the benefit of transplantation.

摘要

我们报告了一例家族性非典型溶血性尿毒症综合征(aHUS)患者的病例,该患者在首次肾移植因复发性aHUS失败30个月后成功进行了再次移植。在第二次接受已故供体肾脏移植9个月后,他的移植肾功能良好(肌酐90μmol/L),在标准维持性免疫抑制治疗下未发现疾病复发迹象。首次移植前无法进行基因突变检测,但再次移植前的筛查发现该患者在补体因子H(CFH)基因第23外显子内有一个新发现的突变c.T3566A。目前,澳大利亚没有公共资金用于支付依库珠单抗(一种治疗aHUS的昂贵但有效的补体(C5)抑制剂)。再次移植的决策必须在疾病复发风险和透析时更高的死亡风险之间进行权衡。不存在更严重的CFH基因型有助于做出再次移植的决策,并表明基因突变筛查对于分层疾病复发和移植肾丢失风险与移植益处的重要性。

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New insights into postrenal transplant hemolytic uremic syndrome.肾移植后溶血尿毒综合征的新见解。
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