Section on Nephrology, Department of Internal Medicine, Wake Forest School of Medicine, Winston-Salem, NC.
Department of Surgery, Wake Forest School of Medicine, Winston-Salem, NC.
Transplantation. 2020 Jan;104(1):27-32. doi: 10.1097/TP.0000000000002933.
Association between the apolipoprotein L1 gene (APOL1) and nephropathy has altered the epidemiology of chronic kidney disease. In addition, donor APOL1 genotypes play important roles in the time to allograft failure in kidneys transplanted from deceased donors and the safety of living kidney donation.
This article reviews genetic testing for inherited kidney disease in living kidney donors to improve donor safety. APOL1 genotyping in donors with recent African ancestry is considered.
Based on current data, transplant physicians should discuss APOL1 genotyping with potential living kidney donors self-reporting recent African ancestry. Until results from APOL1 Long-term Kidney Transplant Outcomes Network ancillary studies are available, we present practical approaches from our experience for considering APOL1 genotyping in the living donor evaluation.
Transplant physicians should inform potential living kidney donors at risk for APOL1-associated nephropathy about the gene and possibility of genetic testing early in the donor evaluation, well before scheduling the donor nephrectomy. Transplant programs must weigh risks of performing a donor nephrectomy in those with 2 APOL1 renal risk variants (high-risk genotypes), particularly younger individuals. Our program counsels kidney donors with APOL1 high-risk genotypes in the same fashion as with risk genotypes in other nephropathy genes. Because most African American kidney donor candidates lacking hypertension, proteinuria and reduced kidney function after workup will not possess APOL1 high-risk genotypes, genetic testing is unlikely to markedly increase donor declines and may reassure donors with regard to their long-term kidney outcomes, potentially increasing the number of African American donors.
载脂蛋白 L1 基因（APOL1）与肾病的关联改变了慢性肾脏病的流行病学。此外，供体 APOL1 基因型在来自已故供体的肾移植中同种异体移植物失败的时间以及活体供肾捐献的安全性方面起着重要作用。
本文回顾了活体供肾者遗传性肾病的基因检测，以提高供者安全性。考虑了具有近期非洲血统的供体中的 APOL1 基因分型。
根据目前的数据，移植医生应该与自我报告有近期非洲血统的潜在活体供肾者讨论 APOL1 基因分型。在 APOL1 长期肾脏移植结局网络辅助研究的结果可用之前，我们根据我们的经验提出了在活体供者评估中考虑 APOL1 基因分型的实用方法。
移植医生应该在供者评估早期，即在安排供者肾切除术之前，就 APOL1 相关肾病的风险向有 APOL1 相关肾病风险的潜在活体供者告知该基因和基因检测的可能性。移植项目必须权衡在具有 2 个 APOL1 肾脏风险变异体（高风险基因型）的个体中进行供者肾切除术的风险，尤其是年轻个体。我们的项目以与其他肾病基因的风险基因型相同的方式为具有 APOL1 高风险基因型的肾脏供者提供咨询。由于大多数缺乏高血压、蛋白尿和检查后肾功能降低的非裔美国肾脏供体候选者不会携带 APOL1 高风险基因型，因此基因检测不太可能显著增加供体的下降，并且可能会使供体对其长期肾脏预后感到放心，从而可能增加非裔美国供体的数量。
