Polymorphisms of genes of the renin-angiotensin system: significance in the progression of chronic kidney disease in children

O. A. Sedashkina, G. Poretskova, G. Makovetskaya
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Abstract

Introduction. A comprehensive analysis of the polymorphisms of the genes of the renin-angiotensin system in children with different nosological forms of nephropathies is a necessary step in determining the clinical and genetic features of the formation of chronic kidney disease (CKD). Aim: to establish the features of ACE (D/I), GT (Thr174Met), AGT (Met235Thr) and AGTR1 (A1166C) gene polymorphisms in CKD children and determine their significance in the progression of the disease. Materials and methods. A retrospective and prospective study included one hundered 1 to 17 years children with nephropathies, examined in the children’s nephrology department of the Samara Regional Hospital over 10 years. In children, the identification of single nucleotide polymorphisms of genes was carried out using an allele-specific polymerase chain amplification reaction using test systems. Evaluation of clinical and paraclinical markers of progression in CKD was carried out twice a year. The results of the study were evaluated with the calculation of the Student–Fisher criteria and correlation analysis. Results. in patients with kidney diseases, there was a trend towards an increase in the occurrence of single nucleotide polymorphisms of genes that affect the renin-angiotensin system (RAS). CKD patients at the stage 3–5 accounted for 35%. They had D/D ACE alleles combined with alleles AGT Thr174Met (27.9 ± 6.83%) and Met235Thr (41.86 ± 7.5%), Thr235Thr (30.2 ± 7.0%) and AGTR1 A1166C (37.2 ± 7.32%) more often than in milder CKD (0 and 7.5 ± 3.37%; 5.2 ± 2.94% and 5.2 ± 2.94%; respectively, p ≤ 0.010). Соnclusion. The study of clinical and genetic features of CKD is relevant for the purpose of timely implementation of preventive measures.
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肾素-血管紧张素系统基因多态性:在儿童慢性肾病进展中的意义
介绍。综合分析不同病种肾病患儿肾素-血管紧张素系统基因多态性是确定慢性肾病(CKD)形成的临床和遗传特征的必要步骤。目的:建立CKD患儿ACE (D/I)、GT (Thr174Met)、AGT (Met235Thr)、AGTR1 (A1166C)基因多态性特征,探讨其在CKD进展中的意义。材料和方法。一项回顾性和前瞻性研究包括110至17岁的肾病儿童,在萨马拉地区医院儿童肾脏病科检查了10年。在儿童中,使用测试系统使用等位基因特异性聚合酶链扩增反应进行基因单核苷酸多态性的鉴定。评估CKD进展的临床和临床旁标志物每年进行两次。采用Student-Fisher标准计算和相关分析对研究结果进行评价。结果。在肾病患者中,影响肾素-血管紧张素系统(RAS)的基因的单核苷酸多态性有增加的趋势。3-5期CKD患者占35%。D/D ACE等位基因与AGT Thr174Met(27.9±6.83%)和Met235Thr(41.86±7.5%)、Thr235Thr(30.2±7.0%)和AGTR1 A1166C(37.2±7.32%)等位基因结合的频率高于轻度CKD(0和7.5±3.37%);5.2±2.94%和5.2±2.94%;p≤0.010)。Соnclusion。研究CKD的临床和遗传特征,有助于及时实施预防措施。
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来源期刊
Russian Journal of Pediatric Hematology and Oncology
Russian Journal of Pediatric Hematology and Oncology Medicine-Pediatrics, Perinatology and Child Health
CiteScore
0.40
自引率
0.00%
发文量
36
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