Affiliation:
1. Samara State Medical University of the Ministry of Health of the Russian Federation
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.
Publisher
National Medical Research Center for Childrens Health