The prevalence of renal diseases is rising and reaching 5-15% of the adult population. Renal damage is associated with disturbances of body homeostasis and the loss of equilibrium between exogenous and endogenous elements including drugs and metabolites. Studies indicate that renal diseases are influenced not only by environmental but also by genetic factors. In some cases the disease is caused by mutation in a single gene and at that time severity depends on the presence of one or two mutated alleles. In other cases, renal disease is associated with the presence of alteration within a gene or genes, but environmental factors are also necessary for the development of disease. Therefore, it seems that the analysis of genetic aspects should be a natural component of clinical and experimental studies. The goal of personalized medicine is to determine the right drug, for the right patient, at the right time. Whole-genome examinations may help to change the approach to the disease and the patient resulting in the creation of "personalized medicine" with new diagnostic and treatment strategies designed on the basis of genetic background of each individual. The identification of high-risk patients in pharmacogenomics analyses will help to avoid many unwarranted side effects while optimizing treatment efficacy for individual patients. Personalized therapies for kidney diseases are still at the preliminary stage mainly due to high costs of such analyses and the complex nature of human genome. This review will focus on several areas of interest: renal disease pathogenesis, diagnosis, treatment, rate of progression and the prediction of prognosis.

译文

肾脏疾病的患病率正在上升,并达到成年人口的5-15%。肾脏损害与机体稳态紊乱以及外源性和内源性元素 (包括药物和代谢物) 之间平衡的丧失有关。研究表明,肾脏疾病不仅受环境影响,还受遗传因素影响。在某些情况下,该疾病是由单个基因突变引起的,当时的严重程度取决于一个或两个突变等位基因的存在。在其他情况下,肾脏疾病与一个或多个基因内的改变有关,但环境因素也是疾病发展所必需的。因此,似乎遗传方面的分析应该是临床和实验研究的自然组成部分。个性化医疗的目标是在正确的时间为正确的患者确定正确的药物。全基因组检查可能有助于改变疾病和患者的治疗方法,从而创建具有基于每个个体遗传背景设计的新诊断和治疗策略的 “个性化医学”。在药物基因组学分析中识别高危患者将有助于避免许多不必要的副作用,同时优化单个患者的治疗效果。肾脏疾病的个性化治疗仍处于初步阶段,这主要是由于此类分析的高昂成本和人类基因组的复杂性。这篇综述将集中在几个感兴趣的领域: 肾脏疾病的发病机制,诊断,治疗,进展率和预后预测。

+1
+2
100研值 100研值 ¥99课程
检索文献一次
下载文献一次

去下载>

成功解锁2个技能,为你点赞

《SCI写作十大必备语法》
解决你的SCI语法难题!

技能熟练度+1

视频课《玩转文献检索》
让你成为检索达人!

恭喜完成新手挑战

手机微信扫一扫,添加好友领取

免费领《Endnote文献管理工具+教程》

微信扫码, 免费领取

手机登录

获取验证码
登录