Kiliś-Pstrusińska Katarzyna
Katedra i Klinika Nefrologii Pediatrycznej Akademii Medycznej we Wrocławiu, ul. M. Skłodowskiej-Curie 50/52, 50-369 Wrocław.
Postepy Hig Med Dosw (Online). 2010 Feb 17;64:50-7.
The factors influencing the onset and progression of chronic kidney disease (CKD) are not completely known. It is believed that genetic factors may play a significant role. The article presents the results of population, family, and animal studies which indicate the participation of genetic factors in CKD development. The main strategies for identifying genes involved in CKD development(genome scan studies and candidate gene studies) are described. Polymorphisms of selected candidate genes for CKD are reviewed. Special attention is paid to studies concerning the genes of the renin-angiotensin-aldosterone system (angiotensin-converting enzyme and angiotensin II type 1 receptor genes), cytokine genes (IL-10, IL-4, IL-6, IL-1beta, TNF-alpha, TGF-beta1,MCP, RANTES), and the gene encoding methylenetetrahydrofolate reductase. The results of studies on the role of TGFB1 gene in kidney diseases are analyzed. The genetic basis of IgA nephropathy and kidney insufficiency progression in the course of the disease is shown. The results of genetic studies of CKD are inconclusive. The article underlines the importance of identifying the genetic background of CKD to individualize patient therapy.
影响慢性肾脏病(CKD)发病和进展的因素尚未完全明确。人们认为遗传因素可能起重要作用。本文介绍了群体、家族和动物研究的结果,这些结果表明遗传因素参与了CKD的发生发展。文中描述了识别参与CKD发生发展的基因的主要策略(基因组扫描研究和候选基因研究)。对选定的CKD候选基因的多态性进行了综述。特别关注了有关肾素 - 血管紧张素 - 醛固酮系统基因(血管紧张素转换酶和血管紧张素II 1型受体基因)、细胞因子基因(IL - 10、IL - 4、IL - 6、IL - 1β、TNF - α、TGF - β1、MCP、RANTES)以及编码亚甲基四氢叶酸还原酶的基因的研究。分析了TGFB1基因在肾脏疾病中作用的研究结果。展示了IgA肾病和疾病过程中肾功能不全进展的遗传基础。CKD的遗传学研究结果尚无定论。本文强调了识别CKD遗传背景以实现患者个体化治疗的重要性。