ISSN 1006-298X      CN 32-1425/R

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肾脏病与透析肾移植杂志 ›› 2023, Vol. 32 ›› Issue (4): 363-368.DOI: 10.3969/j.issn.1006-298X.2023.04.014

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急性肾损伤基因多态性的研究进展

  

  • 出版日期:2023-08-28 发布日期:2023-08-30

Advances in gene polymorphism analysis of acute kidney injury

  • Online:2023-08-28 Published:2023-08-30

摘要: 急性肾损伤(AKI)是重大疾病的常见并发症之一,在过去几十年,其发病率及死亡率显著增加。用于定义和监测AKI进展的指标(如血清肌酐和血尿素氮水平)不敏感、无特异性。迄今为止,尚无AKI生物标志物在临床实践中被广泛接受和使用。研究发现炎症反应失衡、缺血再灌注、细胞凋亡、线粒体功能等在AKI的发生发展过程中扮演重要角色。但是,现有机制无法解释AKI发生和严重程度的广泛变异,说明个体遗传易感性存在差异,因此遗传变异导致的基因多态性为我们提供了一个极具前景的研究方向。随着对基因研究的不断深入,越来越多的研究显示了遗传因素与AKI的发病风险和预后有着重要关系。本文将对基因多态性与AKI的相关研究进展进行简要概述。


关键词: 急性肾损伤, 基因多态性, 遗传

Abstract: Acute kidney injury (AKI) is a common complication of major diseases.In past decades,morbidity and mortality of AKI have increased significantly. The standard indicators used to define and monitor the progression of AKI (such as serum creatinine and blood urea nitrogen levels) are insensitive and non-specific,no AKI biomarkers have been widely accepted and adopted in clinical practice. Currently, it has been found that the imbalance of inflammatory response, ischemia reperfusion, cell apoptosis, mitochondrial function and so on play an important role in occurrence and development of AKI. However, current mechanisms are unable to explain the wide variability in the occurrence and severity of AKI, indicating the differences in individual genetic susceptibility. Therefore, genetic polymorphism caused by genetic variation provides a promising research direction.With the deepening of gene research, more and more studies have shown that genetic factors have significant association with the risk and prognosis of AKI. Genetic factors have been identified as potential causes of susceptibility and severity of AKI. In this paper, research progress of gene polymorphism and AKI is briefly reviewed.


Key words: acute kidney injury, gene polymorphism, inheritance