精准医学案例：APOL1 与基因检测在慢性肾病评估及潜在移植中的应用
Cases in Precision Medicine: APOL1 and Genetic Testing in the Evaluation of Chronic Kidney Disease and Potential Transplant.
机构信息
Columbia University, New York, New York (Y.D.N., S.M., A.G.G., K.K.).
出版信息
Ann Intern Med. 2019 Nov 5;171(9):659-664. doi: 10.7326/M19-1389. Epub 2019 Oct 8.
Abstract
This article discusses potential indications for genetic testing in an African American patient with chronic kidney disease who is being evaluated for a kidney transplant. Two known risk variants in the APOL1 (apolipoprotein L1) gene predispose to kidney disease and are found almost exclusively in persons of African ancestry. APOL1 risk variants are considered, including whether clinicians should incorporate genetic testing in the screening process for living kidney donors. In addition to APOL1 testing, the role of diagnostic exome sequencing in evaluating potential transplant recipients and donors with a positive family history of kidney disease is discussed.
摘要
本文讨论了一名非裔美国慢性肾脏病患者接受肾脏移植评估时基因检测的潜在适应证。APOL1（载脂蛋白 L1）基因中的两个已知风险变异与肾脏病易感性相关，且几乎仅存在于非裔人群中。讨论了 APOL1 风险变异的相关内容，包括临床医生是否应将基因检测纳入活体肾脏供者筛选过程。除了 APOL1 检测，还讨论了外显子组测序在具有肾脏病阳性家族史的潜在移植受者和供者评估中的作用。
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本文引用的文献
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APOL1 Genetic Testing in Living Kidney Transplant Donors.APOL1 基因检测在活体肾移植供者中的应用。
Am J Kidney Dis. 2019 Oct;74(4):538-543. doi: 10.1053/j.ajkd.2019.02.007. Epub 2019 Apr 11.
2
You Are Just Now Telling Us About This? African American Perspectives of Testing for Genetic Susceptibility to Kidney Disease.你现在才告诉我们这件事？非裔美国人对肾脏疾病遗传易感性检测的看法。
J Am Soc Nephrol. 2019 Apr;30(4):526-530. doi: 10.1681/ASN.2018111091. Epub 2019 Mar 11.
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US Renal Data System 2018 Annual Data Report: Epidemiology of Kidney Disease in the United States.美国肾脏数据系统2018年年报：美国肾脏疾病流行病学
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4
Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients.全外显子组测序为肾移植受者提供精准医学方法。
J Am Soc Nephrol. 2019 Feb;30(2):201-215. doi: 10.1681/ASN.2018060575. Epub 2019 Jan 17.
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Worldwide Frequencies of APOL1 Renal Risk Variants.载脂蛋白L1（APOL1）肾脏风险变异的全球频率。
N Engl J Med. 2018 Dec 27;379(26):2571-2572. doi: 10.1056/NEJMc1800748.
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Diagnostic Utility of Exome Sequencing for Kidney Disease.外显子组测序在肾脏疾病诊断中的应用。
N Engl J Med. 2019 Jan 10;380(2):142-151. doi: 10.1056/NEJMoa1806891. Epub 2018 Dec 26.
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Developing an ethics framework for living donor transplantation.制定活体供者移植的伦理框架。
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