Litvinova M.M.
Filippova T.V.
Svetlichnaya D.V.
Morozov S.L.
Chugunov I.S.
Nuralieva S.Z.
Rudenko V.I.
Gadzhieva Z.K.
Subbotina T.I.
Shumikhina M.V.
I.M. Sechenov First Moscow State Medical University of Ministry of Public Health of the Russian Federation, Moscow, Russia.
The Loginov Moscow Clinical Scientific Center of Moscow Health Department, Moscow, Russia.
Moscow Regional Research and Clinical Institute, Moscow, Russia.
Veltischev Research and Clinical Institute for Pediatrics, Moscow, Russia.
Endocrinology Research Center, Ministry of Health of Russia, Moscow, Russia.
N.F. Filatov Childrens City Hospital of Moscow Healthcare Ministry, Moscow, Russia.
Molecular and genetic technologies for the diagnosis of monogenic forms of urinary stone disease: clinical cases
Текст визуальный электронный
Urologiia (Moscow, Russia : 1999)
№ 3 С. 81-86
2020
CYP24A1
SLC7A9
cystinuria
gene
genetic diagnostics
genetic testing
hypercalcemia
kidney stone disease
medullary nephrocalcinosis
monogenic forms
urolithiasis
Статья
Child M01.060.406
Дети M01.060.406
Child, Preschool M01.060.406.448
Дошкольники M01.060.406.448
Cystinuria C12.050.351.968.419.815.885.250 C16.320.831.885.250
Цистинурия C12.050.351.968.419.815.885.250 C16.320.831.885.250
Humans B01.050.150.900.649.313.988.400.112.400.400
Человек B01.050.150.900.649.313.988.400.112.400.400
Hypercalcemia C18.452.174.451 C18.452.950.340
Гиперкальциемия C18.452.174.451 C18.452.950.340
Infant M01.060.703
Младенец M01.060.703
Mutation G05.365.590
Мутация G05.365.590
Urinary Calculi C12.050.351.968.967.500 C12.200.777.967.500 C12.950.967.500 C23.300.175.850
Мочевой камень C12.050.351.968.967.500 C12.200.777.967.500 C12.950.967.500 C23.300.175.850
Urolithiasis C12.050.351.968.967 C12.200.777.967 C12.950.967
Уролитиаз C12.050.351.968.967 C12.200.777.967 C12.950.967
Journal Article V02.600
Журнальная статья V02.600
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.