Polymorphism of genes of immune-inflammatory response, thrombophilia, and arterial hypertension in kidney diseases in children (literature review)

A. Vyalkova, I. V. Zorin, G. K. Karymova, S. A. Chesnokova
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Abstract

   Modern scientific data and the emergence of new opportunities for the development of pediatrics and nephrology are inextricably linked with medical genetics, the role of which is especially important for understanding the etiology and pathogenesis of many diseases of the urinary system. In 35–80 % of children with diffuse connective tissue diseases, kidney damage is formed, which is one of the leading causes of comorbidity of pathology and mortality of patients. Modern genetic research will allow not only to decipher the nature of diseases but also to scientifically substantiate adequate therapy. The active development of methods for the molecular diagnosis of kidney diseases opens up a large section of medicine, which can be called "molecular nephropathology". Further study of kidney diseases from the standpoint of molecular biology will allow us to take a fresh look at the pathogenesis of many diseases and solve a number of problems from the standpoint of personalized therapy, which takes into account the genetic characteristics of the patient. The active development of genetic research in nephrology has led to an understanding of the role of genetic mutations and polymorphisms leading to the occurrence of nephropathies in children. Correct clarification of the causes of the development of the disease can radically change the tactics of managing a patient by a nephrologist and rheumatologist. Determination of the genetic cause of the development of nephropathy is important in children since it justifies the need to examine other family members, it will allow predicting the risk of developing kidney pathology in diffuse connective tissue diseases, which is very important, predicting the response to immunosuppressive therapy. The development of molecular diagnostic methods is increasingly opening up prospects for a personalized approach to the study of pathology at various levels of interaction; these achievements provide a qualitative assessment of DNA, RNA, proteins, and their metabolites, which makes it possible to determine new biomarkers. The article deals with gene polymorphisms in secondary nephropathies in children with diffuse connective tissue diseases (systemic lupus erythematosus, systemic microthrombovasculitis, rheumatoid arthritis).
儿童肾脏疾病免疫炎症反应、血栓形成、动脉高血压基因多态性(文献综述)
现代科学数据的出现以及儿科学和肾脏病学发展的新机遇与医学遗传学有着千丝万缕的联系,医学遗传学的作用对于了解泌尿系统许多疾病的病因和发病机制尤为重要。35 - 80%的弥漫性结缔组织病患儿会形成肾脏损害,这是导致患者病理合并症和死亡的主要原因之一。现代基因研究不仅可以破译疾病的本质,而且可以科学地证实适当的治疗方法。肾脏疾病分子诊断方法的积极发展开辟了一大片医学领域,可称为“分子肾病理学”。从分子生物学的角度进一步研究肾脏疾病,将使我们对许多疾病的发病机制有新的认识,并从考虑患者遗传特征的个性化治疗的角度解决许多问题。肾脏病学中基因研究的积极发展已经导致了对基因突变和多态性导致儿童肾病发生的作用的理解。正确澄清疾病发展的原因可以从根本上改变肾科医生和风湿病学家管理病人的策略。确定儿童肾病发展的遗传原因很重要,因为它证明了检查其他家庭成员的必要性,它将允许预测弥漫性结缔组织疾病发生肾脏病理的风险,这是非常重要的,预测对免疫抑制治疗的反应。分子诊断方法的发展日益开辟了个性化的方法来研究病理在不同层次的相互作用的前景;这些成果提供了DNA、RNA、蛋白质及其代谢物的定性评估,使确定新的生物标志物成为可能。本文探讨了弥漫性结缔组织疾病(系统性红斑狼疮、系统性微血栓血管炎、类风湿性关节炎)患儿继发性肾病的基因多态性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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