APOL1 Polymorphisms in a Deceased Donor and Early Presentation of Collapsing Glomerulopathy and Focal Segmental Glomerulosclerosis in Two Recipients
APOL1 Polymorphisms in a Deceased Donor and Early Presentation of Collapsing Glomerulopathy and Focal Segmental Glomerulosclerosis in Two Recipients
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DOI：
10.1111/ajt.13748
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发表时间：
2016-06-01
影响因子：
8.8
通讯作者：
Wiseman, A. C.
中科院分区：
文献类型：
--
作者：
Shah, P. B.;Cooper, J. E.;Wiseman, A. C.
APOL1中两种常见的多态性（G1和G2）在非洲血统的人中是保守的，并且两种多态性（通常称为风险变体）的存在已被确定为慢性肾脏疾病和局灶节段性肾小球硬化症的风险因素。在肾移植中，具有两个APOL1风险变体的已故供体在受体中具有增加的肾移植物衰竭风险。一个新出现的问题是，这些数据是否应该影响已故供体的评估或用于改善同种异体移植物存活的预测。我们首次详细报道了两例移植后第一年发生受体肾小球疾病的病例，这两例患者均为已故捐献者，后来被定义为携带两种APOL1风险变体。一个可能的“第二次打击”易患肾脏疾病，在这些收件人进行了讨论，一个与活动性巨细胞病毒感染并发塌陷肾小球病和肾功能衰竭和其他慢性，愈合缓慢的伤口感染和局灶节段性肾小球硬化症，但稳定的肾功能。回顾过去，对供体APOL1风险等位基因的认识不会影响供体的选择，最终也不会影响移植后的管理。这些病例报告为进一步讨论已故捐赠者的APOL 1检测价值提供了信息。
Two common polymorphisms in APOL1 (G1 and G2) are conserved in persons of African ancestry, and the presence of two polymorphisms (commonly referred to as risk variants) has been identified as a risk factor for chronic kidney disease and focal segmental glomerulosclerosis. In kidney transplantation, deceased donors with two APOL1 risk variants carry an increased risk of renal allograft failure in the recipient. An emerging question is whether these data should influence deceased donor assessment or be used to refine prediction of allograft survival. We present the first detailed report of two cases of recipient glomerular disease in the first year following transplant from a deceased donor later defined as carrying two APOL1 risk variants. A possible "second hit" predisposing to renal disease in these recipients is discussed, one with active cytomegalovirus infection concurrent with collapsing glomerulopathy and renal failure and the other with chronic, slowly healing wound infection and focal segmental glomerulosclerosis but stable renal function. In retrospect, awareness of the donor APOL1 risk alleles would not have influenced donor selection and ultimately did not influence posttransplant management. These case reports inform further discussion of the value of APOL1 testing for deceased donors.