Gluba-Brzózka Anna, Franczyk Beata, Olszewski Robert, Banach Maciej, Rysz Jacek
Department of Nephrology, Hypertension and Family Medicine, WAM Teaching Hospital, Lodz 90-549, Poland.
Department of Nephrology, Hypertension and Family Medicine, Medical University of Lodz, Lodz 90-549, Poland.
Int J Mol Sci. 2017 Jun 10;18(6):1248. doi: 10.3390/ijms18061248.
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.
肾脏疾病的患病率正在上升，已达成年人口的5%-15%。肾脏损害与身体内环境稳态紊乱以及外源性和内源性物质（包括药物和代谢产物）之间平衡的丧失有关。研究表明，肾脏疾病不仅受环境因素影响，还受遗传因素影响。在某些情况下，疾病由单个基因突变引起，此时疾病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的改变有关，但环境因素对于疾病的发生发展也是必要的。因此，基因方面的分析似乎应成为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。全基因组检测可能有助于改变对疾病和患者的治疗方法，从而基于每个人的基因背景制定新的诊断和治疗策略，创造出“个性化医疗”。药物基因组学分析中高危患者的识别将有助于避免许多不必要的副作用，同时优化个体患者的治疗效果。肾脏疾病的个性化治疗仍处于初步阶段，主要是因为此类分析成本高昂且人类基因组性质复杂。本综述将聚焦于几个感兴趣的领域：肾脏疾病的发病机制、诊断、治疗、进展速度以及预后预测。
