APOL1 Genetic Testing in Living Kidney Transplant Donors
APOL1 Genetic Testing in Living Kidney Transplant Donors
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DOI：
10.1053/j.ajkd.2019.02.007
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发表时间：
2019-10-01
影响因子：
13.2
通讯作者：
DuBois, James M.
中科院分区：
文献类型：
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作者：
Mohan, Sumit;Iltis, Ana S.;DuBois, James M.
2个载脂蛋白L1基因(APOL1)风险变异的存在与慢性肾脏疾病和终末期肾脏疾病的风险增加相关。来自2个风险变异体的供者的肾脏移植后的不良同种异体移植结果也有报道。这些数据，加上轶事案例报告和最近一项对活体捐赠者的队列研究，提出了一些重要的问题，即携带APOL1风险变异的活体捐赠者的肾脏疾病风险可能增加，以及是否需要将检测作为标准的活体捐赠者评估过程的一部分。考虑到目前对存在2个风险变异的临床影响的不确定性，我们确定了一系列问题，这些问题是制定关于APOL1检测潜在活体肾脏捐赠者的临床政策的核心。我们探讨了在决定何时和向谁提供APOL1检测时出现的伦理挑战，关于APOL1检测的潜在捐赠者应该被告知什么，检测结果应该如何用于确定是否适合捐赠，接受者是否以及何时应该获得结果，以及关于APOL1检测的临床政策应该如何建立。
The presence of 2 apolipoprotein L1 gene (APOL1) risk variants is associated with increased risk for chronic kidney disease and end-stage kidney disease. Inferior allograft outcomes following transplantation with kidneys from donors with 2 risk variants have also been reported. These data, coupled with anecdotal case reports and a recent cohort study of living donors, raise important questions about the potential increased kidney disease risk for living donors with APOL1 risk variants and the need for testing as part of the standard living donor evaluation process. We identify a series of questions that are central to the development of clinical policy regarding APOL1 testing of potential living kidney donors given the current uncertainty over the clinical implications of having 2 risk variants. We explore the ethical challenges that arise when determining when and to whom APOL1 testing should be offered, what potential donors should be told about APOL1 testing, how test results should be used to determine suitability for donation, if and when recipients should have access to results, and how clinical policy regarding APOL1 testing should be established.