Litvinova M.M.
Filippova T.V.
Khafizov K.F.
Svetlichnaya D.V.
Ahmedzyanova D.A.
Rudenko V.I.
Gadzhieva Z.K.
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.
Federal State Budget Institution Center of Strategic Planning of the Ministry of Public Health of the Russian Federation, Moscow, Russia.
Moscow Regional Research and Clinical Institute, Moscow, Russia.
N.F. Filatov Childrens City Hospital of Moscow Healthcare Ministry, Moscow, Russia.
A complicated case of calcium urolithiasis in a carrier of SLC7A9 gene mutation responsible for cystinuria
Текст визуальный электронный
Urologiia (Moscow, Russia : 1999)
№ 6 С. 126-130
2020
calcium stones
cystinuria
exome sequencing
genetic predisposition
hypercalciuria
kidney stone disease
molecular genetic diagnostics
nephrocalcinosis
polygenic forms
urolithiasis
Статья
Amino Acid Transport Systems, Basic genetics D12.776.157.530.200.374 D12.776.543.585.200.374
Аминокислот основных транспорта системы генетика D12.776.157.530.200.374 D12.776.543.585.200.374
Calcium D01.268.552.100 D01.552.539.288 D23.119.100
Кальций D01.268.552.100 D01.552.539.288 D23.119.100
Child M01.060.406
Дети M01.060.406
Cystinuria C12.050.351.968.419.815.885.250 C16.320.831.885.250
Cystinuria genetics 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
Цистинурия генетика 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
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
Urolithiasis genetics 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
Уролитиаз генетика C12.050.351.968.967 C12.200.777.967 C12.950.967
Case Reports V03.100
Описание случаев V03.100
Journal Article V02.600
Журнальная статья V02.600
SLC7A9 protein, human
The article describes a clinical case of kidney stone disease (KSD) in a child of 4 y.o. with calcium urolithiasis. Analysis of chemical content of the kidney stones revealed their calcium-oxalate composition. According to the results of clinical exome sequencing the patient found to be a heterozygous carrier of a pathogenic variant c.695A>G (p.Tyr232Cys) in the gene SLC7A9, attributable for an autosomal recessive form of cystinuria type B. Because of the uroliths calcium composition the patient was also genotyped for SNPs in 15 genes involved in calcium metabolism. Polymorphisms associated with increased risk of calcium urolithiasis were found in 8 of 15 tested genes. The findings could explain clinical features of the patient.