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Hereditary factor of metaphylaxis of urolithiasis: current state of the issue DOI: 10.29188/2222-8543-2022-15-1-76-84
- Tivtikyan A.S. – graduate student at the Department of Urology and Andrology of the Faculty of Fundamental Medicine Lomonosov Moscow State University; Moscow, Russia
- Okhobotov D.A. − PhD, Urologist, Medical Research and Education Center, Lomonosov Moscow State University, associate professor Department of Andrology and Urology, Faculty of Fundamental Medicine; Moscow, Russia; https://orcid.org/0000-0002-6768-9004
- Tarasova A.A. – student of the Faculty of Fundamental Medicine Lomonosov Moscow State University; Moscow, Russia
- Savilov A.V. – Urologist, P.V. Mandryka Central Military Clinical Hospital of the Ministry of Defense of the Russian Federation; Moscow, Russia
- Shershnev S.P. – PhD, Head of the Urological Department of P.V. Mandryka Central Military Clinical Hospital of the Ministry of Defense of the Russian Federation; Moscow, Russia
- Samokhodskaya L.M. – PhD, associate professor, Head of the Laboratory Diagnostics Department at Medical Research and Education Center Lomonosov Moscow State University; Moscow, Russia
- Strigunov A.A. – graduate student at the Department of Urology and Andrology of the Faculty of Fundamental Medicine Lomonosov Moscow State University; Moscow, Russia
- Afanasyevskaya E.V. – graduate student at the Department of Urology and Andrology of the Faculty of Fundamental Medicine Lomonosov Moscow State University; Moscow, Russia
- Nesterova O.Yu. – resident physician at the Department of Urology and Andrology of the Faculty of Fundamental Medicine Lomonosov Moscow State University; Moscow, Russia
- Kamalov A.A. – Dr. Sc., Professor, Academician RAS, Director of Medical Research and Education Center of Lomonosov Moscow State University, Head of the Department of Urology and Andrology Faculty of Fundamental Medicine, Lomonosov Moscow State University; Moscow, Russia; https://orcid.org/0000-0003-4251-7545
470 Introduction. Urolithiasis is one of the most common urological diseases. Up to 50% of patients who have suffered from the first episode of nephrolithiasis will have the second episode within 10 years, so the question of metaphylaxis of this disease is relevant, taking into account the genetic predisposition of a particular patient.
Goal. Based on the analysis of literature data, to determine the role of genetic factors in the development of nephrolithiasis and to identify the possibilities of metaphylaxis of urolithiasis in patients with a hereditary factor.
Materials and methods. The results of the search in scientific databases MEDLINE, EMBASE, DisGeNET, OMIM were analyzed. The search was performed by the keywords: «genetic factors of urolithiasis», «genetic risks of idiopathic nephrolithiasis», «vitamin D receptor polymorphisms and urolithiasis». Оne hundred and forty one articles were found for the period from 1995 to 2020 related to the topic of the review and subsequently, as a result of a detailed verification of the reliability of sources, 70 articles were selected for citation.
Results. Nephrolithiasis is a multifactorial disease and polymorphisms of various genes can contribute to development. Currently, the greatest importance in the development of calcium-oxalate and calcium-phosphate nephrolithiasis is related to mutations of the genes SPP1, CaSR, CLDN14, VDR, KL, in the development of urate nephrolithiasis – SCL2A9. According to functional groups, these mutations can be divided into mutations that enhance the nodule of stones, affect the exchange of calcium and phosphate, inhibitors of stone formation, the exchange of urates, as well as inflammation/oxidative stress.
Conclusions. Determination of genetic markers of urolithiasis metaphylaxis will allow to take into account additional risks of urolithiasis relapses in the postoperative period, or to identify patients in risk groups in endemic conditions.
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