Section on Nephrology, Department of Internal Medicine, Wake Forest School of Medicine, Winston-Salem, NC.
Division of Transplantation, Department of Surgery, University of Alabama at Birmingham School of Medicine, Birmingham, AL; Comprehensive Transplant Institute, University of Alabama at Birmingham School of Medicine, Birmingham, AL.
Semin Nephrol. 2017 Nov;37(6):530-537. doi: 10.1016/j.semnephrol.2017.07.006.
The pathogenesis of many common etiologies of nephropathy has been informed by recent molecular genetic breakthroughs. It now is apparent that the ethnic disparity in the risk for nondiabetic chronic kidney disease between African Americans and European Americans is explained largely by variation in the apolipoprotein L1 gene (APOL1). The presence of two APOL1 renal risk variants markedly increases an individual's risk for kidney disease. In transplantation, kidneys from deceased African Americans with two APOL1 renal risk variants have shorter survival intervals after engraftment, regardless of the ethnicity of the recipient. Precision medicine will transform the clinical practice of nephrology and kidney transplantation, and play an important role in the allocation of kidneys from deceased and living kidney donors with recent African ancestry. This article reviews existing data on APOL1 in deceased-donor and living-donor kidney transplantation. It considers the impact of including APOL1 genotyping in decisions on the allocation and discard of deceased-donor kidneys, as well as the selection of living donors.
最近的分子遗传学突破为许多常见肾病病因的发病机制提供了信息。现在很明显,非裔美国人和欧洲裔美国人之间非糖尿病性慢性肾脏病风险的种族差异在很大程度上是由载脂蛋白 L1 基因 (APOL1) 的变异引起的。APOL1 肾脏风险变异体的存在显著增加了个体患肾脏病的风险。在移植中,无论受者的种族如何,携带两个 APOL1 肾脏风险变异体的已故非裔美国人的肾脏在移植后存活时间更短。精准医学将改变肾脏病学和肾移植的临床实践,并在分配最近有非洲血统的已故和活体肾脏供体的肾脏方面发挥重要作用。本文综述了有关已故供体和活体供体肾移植中 APOL1 的现有数据。它考虑了将 APOL1 基因分型纳入有关已故供体肾脏分配和丢弃决策以及活体供者选择的影响。