Filippova T.V.
Svetlichnaya D.V.
Rudenko V.I.
Alyaev Y.G.
Shumikhina M.V.
Azova M.M.
Subbotina T.I.
Gadzhieva Z.K.
Asanov A.Y. A Yu
Litvinova M.M.
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.
N.F. Filatov Childrens City Hospital of Moscow Healthcare Ministry, Moscow, Russia.
Peoples Friendship University of Russia, Moscow, Russia.
Genetic aspects of primary hyperoxaluria: diagnostics and treatment
Текст визуальный электронный
Urologiia (Moscow, Russia : 1999)
№ 5 С. 140-143
2019
AGXT
GRHPR
HOGA1
kidney stone disease
oxalosis
primary hyperoxaluria
treatment
urolithiasis
Статья
Обзор
Genetic Predisposition to Disease C23.550.291.687.500 G05.380.355
Генетическая предрасположенность к болезни C23.550.291.687.500 G05.380.355
Genotype G05.380
Генотип G05.380
Humans B01.050.150.900.649.313.988.400.112.400.400
Человек B01.050.150.900.649.313.988.400.112.400.400
Hyperoxaluria, Primary diagnosis C12.050.351.968.419.313.500 C12.200.777.419.313.500 C12.950.419.313.500 C16.320.565.202.460 C18.452.648.202.460
Hyperoxaluria, Primary genetics C12.050.351.968.419.313.500 C12.200.777.419.313.500 C12.950.419.313.500 C16.320.565.202.460 C18.452.648.202.460
Hyperoxaluria, Primary therapy C12.050.351.968.419.313.500 C12.200.777.419.313.500 C12.950.419.313.500 C16.320.565.202.460 C18.452.648.202.460
Гипероксалурия первичная диагностика C12.050.351.968.419.313.500 C12.200.777.419.313.500 C12.950.419.313.500 C16.320.565.202.460 C18.452.648.202.460
Гипероксалурия первичная генетика C12.050.351.968.419.313.500 C12.200.777.419.313.500 C12.950.419.313.500 C16.320.565.202.460 C18.452.648.202.460
Гипероксалурия первичная терапия C12.050.351.968.419.313.500 C12.200.777.419.313.500 C12.950.419.313.500 C16.320.565.202.460 C18.452.648.202.460
Kidney physiopathology A05.810.453
Почки патофизиология A05.810.453
Kidney Calculi genetics C12.050.351.968.419.600.500 C12.050.351.968.967.249.500 C12.050.351.968.967.500.503 C12.200.777.419.600.500 C12.200.777.967.249.500 C12.200.777.967.500.503 C12.950.419.600.500 C12.950.967.249.500 C12.950.967.500.503 C23.300.175.850.550
Почечнокаменная болезнь генетика C12.050.351.968.419.600.500 C12.050.351.968.967.249.500 C12.050.351.968.967.500.503 C12.200.777.419.600.500 C12.200.777.967.249.500 C12.200.777.967.500.503 C12.950.419.600.500 C12.950.967.249.500 C12.950.967.500.503 C23.300.175.850.550
Molecular Biology H01.158.201.636 H01.158.273.343.595 H01.181.122.650
Молекулярная биология H01.158.201.636 H01.158.273.343.595 H01.181.122.650
Phenotype G05.695
Фенотип G05.695
Journal Article V02.600
Журнальная статья V02.600
Review V02.600.500 V02.912
Обзор V02.600.500 V02.912
Primary hyperoxaluria is a group of inherited metabolic diseases characterized by increased formation of calcium-oxalate stones in kidneys with development of nephrolithiasis and chronic kidney disease. The article summarizes the modern information on the diagnostics and treatment of the disorder depending on genotype of the patient (AGXT, GRHPR, HOGA1 genes). The evaluation of the molecular genetic aetiology of the kidney stone disease contributes to the personalized treatment and prevention of the pathology in the patients and their relatives.