30 -10 (60) 2023 — A.M. Shamsiev, Sh.A. Yusupov — RISK OF URINARY STONE DISEASE IN CHILDREN AND POLYMORPHISM OF GENES

RISK OF URINARY STONE DISEASE IN CHILDREN AND POLYMORPHISM OF GENES

A.M. Shamsiev, Samarkand State Medical University

Sh.A. Yusupov, Samarkand State Medical University

L.R. Khakimova, Samarkand State Medical University

J.O. Atakulov, Samarkand State Medical University

J.A. Shamsiev, Samarkand State Medical University

F.E. Rakhimov Samarkand State Medical University

Resume

Purpose: to study the risk of urolithiasis development in children of uzbek population associated with gene polymorphism.

Methods: the study was conducted at the Specialised Children’s Surgical Clinic of Samarkand State Medical University in two stages from 2012-2019. At the first stage, a retrospective analysis of case histories of 652 admissions was performed. At the second stage, a prospective study of 100 patients with urolithiasis and 100 practically healthy children was conducted. Anamnestic, clinical, laboratory, biochemical, instrumental, immunogenetic, statistical methods of research were used in the study.

Results. The disease has an endemic character. Territorial variability is associated with geoanthropotechnogenic risk factors influencing the formation of prelithiasis and urolithiasis in children. Changes in dietary patterns and drinking disorders determine the frequency of its diagnosis at school age. Among endogenous risk factors for the development of urolithiasis in children, gender, genetic predisposition and developmental anomalies of the urinary system are of particular importance. Genetic markers of predisposition to urinary stone disease are Ff+ff genotypes of VDR gene and CC genotype of IL-1β gene. The variability of the clinical picture of urolithiasis in children depending on their age and the presence of risk factors necessitates the annual inclusion of clinical, laboratory, instrumental and immunogenetic methods of research in the plan of examination of children at high risk of developing urolithiasis.

Conclusion: an algorithm for early diagnosis of urolithiasis in children has been developed for outpatient and polyclinic institutions, which allows predicting the risk group for the development of urolithiasis with the inclusion of testing for Fok1 genotypes of VDR gene polymorphism and IL-1β gene polymorphism in the complex programme.

Key words: urolithiasis in children, early diagnosis, urinary stone disease, risk factors, genetic factors, prelithiasis, ambulatory and polyclinic care facilities.

First page

184

Last page

191

For citation: A.M. Shamsiev, Sh.A. Yusupov, L.R. Khakimova, J.O. Atakulov, J.A. Shamsiev, F.E. Rakhimov – RISK OF URINARY STONE DISEASE IN CHILDREN AND POLYMORPHISM OF GENES //New Day in Medicine 2023 10(60): 184-191 https://newdaymedicine.com/index.php/2023/10/06/l-418/

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