doi: 10.25005/2074-0581-2023-25-3-346-355

Sh.A. Yusupov1, L.R. Khakimova2

1Department of Pediatric Surgery № 2, Samarkand State Medical University, Samarkand, Republic of Uzbekistan
2Department of General Practice/Family Medicine FPE, Samarkand State Medical University, Samarkand, Republic of Uzbekistan

Objective: To determine the genetic polymorphism associated with the development of urolithiasis (UL) in children of the Uzbek population.

Methods: The study was conducted in the Specialized Children's Surgical Hospital of the Samarkand State Medical University between 2012 and 2019. In the first stage, a retrospective analysis of the case histories of 652 admitted patients was undertaken. In the second stage, 200 children aged 1 to 17 years were enrolled in the study, of which 100 were diagnosed with UL (main group), and 100 comprised the control group without UL (hospitalized for minor planned surgical interventions, such as circumcision or hernia repair). Immunogenetic studies of the vitamin D receptor (VDR), IL-1β, and IL-18 genes were carried out.

Results: The obtained results indicate that polymorphism of the VDR and IL-1β genes plays an important role in susceptibility to UL. In the study groups, a statistically significant association of F/f+f/f genotypes of the VDR gene (Fok-1) with UL was found, which was 1.3 times more frequent in the main group than in the control one (p=0.033; χ2 =4.56). The C/C allele of the IL-1β gene was significantly more frequently detected in the main vs. control group (p=0.027; χ2 =7.23; df=2). The distribution of frequency of IL-18 (+105A/C) gene polymorphism for all models of inheritance was not statistically significantly different in the main and control groups (p>0.05; χ2 =3.93; df=2).

Conclusion: : The role of the immunogenetic method in the detection of susceptibility to UL development was determined in the study of the distribution of polymorphic markers of the VDR and IL-1β genes, indicating the significance of the immunogenetic factors for the predisposition to UL in children of the Uzbek population which may predict the disease at its preclinical stage. Therefore, in the interests of the early diagnosis of UL in children of the Uzbek population, it is reasonable to include testing for FokI genotype and polymorphism of VDR and IL-1β genes in the complex program of examination.

Keywords: Urolithiasis in children, early diagnosis, risk factors, genetic factors, prelithiasis, outpatient care.

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Author information:

Yusupov Shukhrat Abdurasulovich,
Doctor of Medical Sciences, Associate Professor, Head of the Department of Pediatric Surgery № 2, Samarkand State Medical University
ORCID ID: 0000-0001-7259-028X
Author ID: 554847
SPIN: 3576-7390
E-mail: shuchrat_66@mail.ru

Khakimova Leyla Rafikovna,
Senior Lecturer, Department of General Practice/ Family Medicine FPE, Samarkand State Medical University
ORCID ID: 0000-0003-4638-9499
E-mail: lsf-3@rambler.ru

Information about support in the form of grants, equipment, medications

The work was carried out in accordance with the research plan of the Samarkand State Medical University "Development of advanced technologies for the prevention, diagnosis and treatment of socially significant human diseases of infectious and non-infectious etiology" (state registration number 012000260). The authors did not receive financial support from manufacturers of medicines and medical equipment

Conflicts of interest: No conflict

Address for correspondence:

Yusupov Shukhrat Abdurasulovich
Doctor of Medical Sciences, Associate Professor, Head of the Department of Pediatric Surgery № 2, Samarkand State Medical University

140100, Republic of Uzbekistan, Samarkand, Orzu str., 32

Tel.: +998 (915) 481613

E-mail: shuchrat_66@mail.ru

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