Filippova T.V.
Svetlichnaya D.V.
Rudenko V.I.
Alyaev Y.G.
Tadevosyan E.G.
Azova M.M.
Subbotina T.I.
Gadzhieva Z.K.
Asanov A.Y.
Khamidullin K.R.
Pushkarev A.M.
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.
Peoples Friendship University of Russia, Moscow, Russia.
Department of the Republic of Bashkortostan City Clinical Hospital No. 21, Ufa, Russia.
G.G. Kuvatov Republican Clinical Hospital, Ufa, Russia.
Genetic aspects of primary hyperoxaluria: epidemiology, ethiology, pathogenesis, and clinical signs of the disorder
Текст визуальный электронный
Urologiia (Moscow, Russia : 1999)
№ 6 С. 125-130
2019
AGXT
GRHPR
HOGA1
kidney stone disease
oxalosis
primary hyperoxaluria
urolithiasis
Статья
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 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 epidemiology 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
Гипероксалурия первичная 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 эпидемиология 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
Mutation G05.365.590
Мутация G05.365.590
Urolithiasis C12.050.351.968.967 C12.200.777.967 C12.950.967
Urolithiasis epidemiology 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 эпидемиология 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
Journal Article V02.600
Журнальная статья V02.600
Primary hyperoxaluria is a group of rare inherited diseases characterized by impaired oxalate metabolism with the early manifestation of urolithiasis and the development of the chronic kidney disease. The mutations in the AGXT, GRHPR, HOGA1 genes are attributable for different types of primary hyperoxaluria leading to the dysfunction of specific enzymes involved in the oxalate metabolism. The article summary the current data on the epidemiology, genetic and biochemical aspects of pathogenesis of the primary hyperoxaluria types 1-3. The variety of clinical signs and disease severity depend on the type of hyperoxaluria.