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将载脂蛋白L1(APOL1)基因变异纳入肾移植:美国移植学会专家会议引发的思考

Integrating APOL1 Gene Variants Into Renal Transplantation: Considerations Arising From the American Society of Transplantation Expert Conference.

作者信息

Newell K A, Formica R N, Gill J S, Schold J D, Allan J S, Covington S H, Wiseman A C, Chandraker A

机构信息

Department of Surgery, Emory University School of Medicine, Atlanta, GA.

Department of Medicine, Yale University School of Medicine, New Haven, CN.

出版信息

Am J Transplant. 2017 Apr;17(4):901-911. doi: 10.1111/ajt.14173. Epub 2017 Feb 2.

Abstract

Thirteen percent of individuals of African ancestry express two variant copies of the gene encoding apolipoprotein 1 (APOL1) that has been associated with an increased risk of end-stage renal disease (ESRD) in the general population. Limited studies suggest that the survival of transplanted kidneys from donors expressing two APOL1 risk alleles is inferior to that of kidneys from donors with zero or one risk allele. In living kidney donation, two case reports describe donors expressing two APOL1 risk alleles who developed ESRD. Given the potential impact of APOL1 variants on the utility and safety of kidney transplantation and living kidney donation, the American Society of Transplantation convened a meeting with the goals of summarizing the current state of knowledge with respect to transplantation and APOL1, identifying knowledge gaps and studies to address these gaps, and considering approaches to integrating APOL1 into clinical practice. The authors recognize that current data are not sufficient to support traditional evidence-based guidelines but also recognize that it may require several years to generate the necessary data. Thus, approaches as to how APOL1 might currently be integrated into the clinical decision-making process were considered. This report summarizes the group's deliberations.

摘要

13%的非洲裔个体携带编码载脂蛋白1(APOL1)的基因的两个变异拷贝,该基因与普通人群中终末期肾病(ESRD)风险增加相关。有限的研究表明,来自携带两个APOL1风险等位基因供体的移植肾的存活率低于来自携带零个或一个风险等位基因供体的肾脏。在活体肾捐赠中,有两例病例报告描述了携带两个APOL1风险等位基因的供体发生了ESRD。鉴于APOL1变异对肾移植和活体肾捐赠的效用及安全性的潜在影响,美国移植学会召开了一次会议,目的是总结关于移植与APOL1的当前知识状况,确定知识空白以及填补这些空白的研究,并考虑将APOL1纳入临床实践的方法。作者认识到当前数据不足以支持传统的循证指南,但也认识到可能需要数年时间才能生成必要的数据。因此,探讨了目前如何将APOL1纳入临床决策过程的方法。本报告总结了该小组的讨论情况。

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