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  • 66 -3 (77) 2025 - Yusupov Sh.A., Khakimova L.R. - STUDY OF THE INFLUENCE OF POLYMORPHIC GENE MARKERS ON THE CLINICAL AND FUNCTIONAL FEATURES OF THE COURSE AND RECURRENCE OF UROLITHIA

66 -3 (77) 2025 - Yusupov Sh.A., Khakimova L.R. - STUDY OF THE INFLUENCE OF POLYMORPHIC GENE MARKERS ON THE CLINICAL AND FUNCTIONAL FEATURES OF THE COURSE AND RECURRENCE OF UROLITHIA

STUDY OF THE INFLUENCE OF POLYMORPHIC GENE MARKERS ON THE CLINICAL AND FUNCTIONAL FEATURES OF THE COURSE AND RECURRENCE OF UROLITHIASIS IN CHILDREN

Yusupov Sh.A. - Samarkand State Medical University

Khakimova L.R. - Samarkand State Medical University

Sataev V.U. - Kazan State Medical Academy, Kazan, Republic of Tatarstan, Russia

Razin M.P. - Kirov State Medical University, Kirov, Russia

Kurbonov E.A. - Samarkand State Medical University

Khaidarov O.U.. - Samarkand State Medical University

Erkinjonov M.T. - Samarkand State Medical University

Resume

Despite a lot of population-based molecular genetic studies, molecular genetic markers of urolithiasis are still insufficiently studied. In this connection, it is urgent to study the association of genotypes of polymorphic markers of vitamin D receptor and osteopontin genes with urolithiasis in Uzbekistan. Objective. To study the distribution and influence of genotypes of polymorphic markers of genes on the development, clinical and functional features of the course and recurrences of urolithiasis in children. Material and methods. The study was conducted in the specialised paediatric surgical clinic of Samarkand State Medical University in two stages, in the period from 2012-2020. The work was carried out in two stages. At the first stage, a retrospective analysis of 356 case histories of children aged from 1 to 18 years operated on for urolithiasis in the period from 2008 to 2012 was carried out. 238 of them had long-term results (from 1 to 5 years) of treatment. At the second stage, 200 children aged from 8 months to 18 years were examined and divided into control and research groups. The study group included 100 children diagnosed with urolithiasis; the control group consisted of 100 children without urolithiasis. 200 children in both groups underwent a comprehensive examination. Results. The results of the study indicate that polymorphisms of vitamin D receptor and osteopontin genes are genetic markers in the development of urolithiasis in children, depending on the type of dysmetabolic disorders in urine. Polymorphisms Fok I of VDR gene (F/f+FF genotype) and rs2853744 of osteopontin gene (G/T+T/T genotype), as well as vitamin D level - 20 ng/ml≤vitamin D≤25 ng/ml and serum osteopontin - 10.0 ng/ml≤osteopontin≤12.02 ng/ml are markers of development of recurrence of urolithiasis in children. Conclusion. Thus, genetic markers of urolithiasis development in children, depending on the type of dysmetabolic disorders in urine, are polymorphisms of vitamin D receptor and osteopontin genes. Polymorphisms Fok I of VDR gene (F/f+F/F genotype) and rs2853744 of osteopontin gene (G/T+T/T genotype), as well as vitamin D level - 20 ng/ml≤vitamin D≤25 ng/ml and serum osteopontin - 10.0 ng/ml≤osteopontin≤12.02 ng/ml contribute to the development of urolithiasis recurrence in children. The developed and proposed method allows to predict the risk of recurrence development of urolithiasis in a shorter time and with high reliability.

Key words: urolithiasis in children, markers, gene polymorphism, recurrence, dysmetabolic disorders.

First page

359

Last page

369

For citation:Yusupov Sh.A., Khakimova L.R., Sataev V.U., Razin M.P., Kurbonov E.A., Khaidarov O.U., Erkinjonov M.T. - STUDY OF THE INFLUENCE OF POLYMORPHIC GENE MARKERS ON THE CLINICAL AND FUNCTIONAL FEATURES OF THE COURSE AND RECURRENCE OF UROLITHIASIS IN CHILDREN//New Day in Medicine 3(77)2025 359-369 https://https://newdayworldmedicine.com/en/new_day_medicine/3-77-2025

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