Molecular and genetic technologies for the diagnosis of monogenic forms of urinary stone disease: clinical cases


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Abstract

Kidney stone disease (KSD) is an actual problem of modern health care. By now, more than 80 monogenic forms of urolithiasis have been described. To diagnose such forms of KSD different molecular genetic technologies are used. In the current article 5 clinical cases of KSD among the patients aged 1-9 years old are presented. All of them underwent comprehensive instrumental, clinical, laboratory and molecular genetic investigations. DNA analysis was carried out by Next Generation Sequencing method (NGS) (target NGS-panels and Whole Exome Sequencing). In all cases the molecular genetic cause of the disease was found - idiopathic infantile hypercalcemia type 1 (gene CYP24A1 - 3 cases) and cystinuria (gene SLC7A9 - 2 case). Several unknown genetic variants were found in CYP24A1 (c.1379G>T, c.1156A>T, c.1286T>C) and SLC7A9 (c.920T>A). The importance of genetic testing and the role of genetic counseling for patients with KSD were shown.

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About the authors

M. M Litvinova

I.M. Sechenov First Moscow State Medical University of Ministry of Public Health of the Russian Federation (Sechenov University); The Loginov Moscow Clinical Scientific Center of Moscow Health Department

Email: mariya.litvinova@gmaiI.com
Ph.D, associate professor at the Department of Medical Genetics Moscow, Russia

T. V Filippova

FGAOU VO I.M. Sechenov First Moscow State Medical University

Email: dr.filippova@mail.ru
MD, professor at the Department of Medical Genetics Moscow, Russia

D. V Svetlichnaya

FGAOU VO I.M. Sechenov First Moscow State Medical University; Moscow Regional Research and Clinical Institute (MONIKI)

Email: div.swet@gmail.com
Ph.D. student at the Department of Medical Genetics Moscow, Russia

S. L Morozov

Pirogov Russian National Research Medical University

Email: mser@list.ru
Ph.D, Senior Researcher at the Department of hereditary and acquired kidney diseases of Veltischev Research and Clinical Institute for Pediatrics,associate professor at the Pirogov Russian National Research Medical University Moscow, Russia

I. S Chugunov

Endocrinology Research Center, Ministry of Health of Russia

Email: chugunovigor@gmail.com
PhD, Head of Pediatric Consultative and Diagnostic Department Moscow, Russia

S. Z Nuralieva

I.M. Sechenov First Moscow State Medical University of Ministry of Public Health of the Russian Federation (Sechenov University); The Loginov Moscow Clinical Scientific Center of Moscow Health Department

Email: snuralieva@yandex.ru
student of the student scientific group on medical genetics at the Department of Medical Genetics Moscow, Russia

V. I Rudenko

I.M. Sechenov First Moscow State Medical University of Ministry of Public Health of the Russian Federation (Sechenov University); The Loginov Moscow Clinical Scientific Center of Moscow Health Department

Email: rudenko-vadim@rambler.ru
Ph.D, professor at the Institute of Urology and Reproductive Health of FGAOU VO I.M. Sechenov First Moscow State Medical University, Moscow, Russia; e-mail: rudenko-vadim@ rambler.ru Moscow, Russia

Z. K Gadzhieva

I.M. Sechenov First Moscow State Medical University of Ministry of Public Health of the Russian Federation (Sechenov University); The Loginov Moscow Clinical Scientific Center of Moscow Health Department

Email: zgadzhieva@ooorou.ru
MD, urologist, Head of the Department of analysis of personnel policy, educational programs and scientific research of the National Medical Research Center for «Urology» of FGAOU VO I.M. Sechenov First Moscow State Medical University, Moscow, Russia; e-mail: zgadzhieva@ooorou.ru Moscow, Russia

T. I Subbotina

I.M. Sechenov First Moscow State Medical University of Ministry of Public Health of the Russian Federation (Sechenov University); The Loginov Moscow Clinical Scientific Center of Moscow Health Department

Email: subbotina@1msmu.ru
Ph.D., associate professor at the Department of Medical Genetics Moscow, Russia

M. V Shumikhina

N.F. Filatov Children’s City Hospital of Moscow Healthcare Ministry

Email: marina.shumikhina@gmail.com
Ph.D, nephrologist Moscow, Russia

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