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APOL1 相关性肾病:从遗传学研究到临床应用。

APOL1 Nephropathy: From Genetics to Clinical Applications.

机构信息

Division of Nephrology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts.

出版信息

Clin J Am Soc Nephrol. 2021 Feb 8;16(2):294-303. doi: 10.2215/CJN.15161219. Epub 2020 Jul 2.

Abstract

Rates of many types of severe kidney disease are much higher in Black individuals than most other ethnic groups. Much of this disparity can now be attributed to genetic variants in the apoL1 (APOL1) gene found only in individuals with recent African ancestry. These variants greatly increase rates of hypertension-associated ESKD, FSGS, HIV-associated nephropathy, and other forms of nondiabetic kidney disease. We discuss the population genetics of APOL1 risk variants and the clinical spectrum of APOL1 nephropathy. We then consider clinical issues that arise for the practicing nephrologist caring for the patient who may have APOL1 kidney disease.

摘要

黑人个体患多种严重肾脏疾病的比率远高于大多数其他种族。目前,这种差异很大程度上可归因于仅在具有近期非洲血统的个体中发现的载脂蛋白 L1(APOL1)基因中的遗传变异。这些变异极大地增加了高血压相关的终末期肾病、局灶节段性肾小球硬化症、HIV 相关肾病和其他非糖尿病肾病的发病率。我们讨论了 APOL1 风险变异的群体遗传学以及 APOL1 肾病的临床谱。然后,我们考虑了可能患有 APOL1 肾病的患者的临床问题,这些问题对于临床肾病医生来说。

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