APOL 1与肾脏疾病

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引用次数: 1

摘要

APOL1基因变异已被描述为提供更高的患高血压、肾功能衰竭和终末期肾病的风险。在患有慢性肾病的非洲裔患者中,APOL1基因G1和G2变体的突变发生率分别为20-22%和13-15%[1]。此外,这在以非洲为基础的人口中可能是一个更大的问题,例如,在哥伦比亚,人口的遗传背景是由原住民、欧洲人和非洲人之间不同程度的混合形成的。大约有35.363名患者被诊断为慢性肾脏疾病,根据人口研究,这些患者中有10.4%是非洲裔,在这个国家的一些地区,这种频率可能高达90%。鉴于这一领域在过去几年中的重要性,本综述的目的是强调对受这种遗传高风险变异影响的患者的生物学、病理生理学和肾脏疾病发展的理解方面的重大改进。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
APOL 1 and kidney disease
APOL1 gene variants have been described to offer higher risk to develop hypertension, collapsing nephropthy and end stage kidney disease. The prevalence of mutations of the APOL1 gene among afro-descendant patients with chronic kidney disease for the G1 and the G2 variants can be of 20–22% and 13–15%, respectively [1]. Moreover this can be a greater problem in afrodescendante based populations, for instance, in Colombia, the genetic background of the populations was shaped by different levels of admixture between Natives, European, and Africans. Approximately 35.363 patients have diagnosed chronic kidney disease and according to population studies, 10.4% of these patients are Afro-descendant, and these frecuency can be as high as 90% in some áreas of this country. Given the importance that accounts on this area in the last years, the purpose of this review is to highlight the majors improvements in the understanding on the biology, pathophysiology and kidney disease development on patients affected with this genetic high risk variants.
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