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APOL1 Genetic Testing in Living Kidney Transplant Donors

机译:活性肾移植捐赠者的APOL1遗传测试

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摘要

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.
机译:2载脂蛋白L1基因(APOL1)风险变体的存在与慢性肾病和末期肾病的风险增加有关。据报道,肾脏移植后的较差的同种异体移植结果,也已经报道了具有2个风险变体的供体移植。这些数据与轶事案例报告和最近的生活捐赠者的队列研究相结合,提出了关于患有APOL1风险变量的肾脏疾病风险的潜在肾脏疾病风险的重要问题以及作为标准生活捐助评估过程的一部分进行测试。我们确定了一系列问题,这些问题是有关潜在生活肾脏捐赠者的APOL1测试的临床政策的发展核心,因为在具有2个风险变异的临床意义上的目前的不确定性。我们探讨了在确定应提供APOL1测试的何时和向何时何种何时何种何时提供的伦理挑战,应该如何讲述APOL1测试,如何使用测试结果来确定捐赠的适用性,如果和当收件人应该可以访问结果以及如何建立关于APOL1测试的临床政策。

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