Genetic aspects of primary hyperoxaluria: epidemiology, ethiology, pathogenesis, and clinical signs of the disorder

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.

Авторы
Filippova T.V. 1, 2, 3, 4, 5, 6 , Svetlichnaya D.V. 1, 2, 3, 4, 5, 6 , Rudenko V.I. 1, 2, 3, 4, 5, 6 , Alyaev Y.G. 1, 2, 3, 4, 5, 6 , Tadevosyan E.G. 1, 2, 3, 4, 5, 6 , Azova M.M. 1, 2, 3, 4, 5, 6 , Subbotina T.I. 1, 2, 3, 4, 5, 6 , Gadzhieva Z.K. 1, 2, 3, 4, 5, 6 , Asanov A.Y. 1, 2, 3, 4, 5, 6 , Khamidullin K.R. 1, 2, 3, 4, 5, 6 , Pushkarev A.M. 1, 2, 3, 4, 5, 6 , Litvinova M.M. 1, 2, 3, 4, 5, 6
Номер выпуска
6
Язык
Русский
Страницы
125-130
Статус
Опубликовано
Год
2020
Организации
  • 1 I.M. Sechenov First Moscow State Medical University of Ministry of Public Health of the Russian FederationMoscow, Russian Federation
  • 2 Loginov Moscow Clinical Scientific Center of Moscow Health DepartmentMoscow, Russian Federation
  • 3 Moscow Regional Research and Clinical InstituteMoscow, Russian Federation
  • 4 Peoples Friendship University of RussiaMoscow, Russian Federation
  • 5 Department of the Republic of Bashkortostan City clinical hospital No. 21, Ufa, Russian Federation
  • 6 G.G. Kuvatov Republican Clinical Hospital, Ufa, Russian Federation
Ключевые слова
AGXT; GRHPR; HOGA1; kidney stone disease; oxalosis; primary hyperoxaluria; urolithiasis
Дата создания
10.02.2020
Дата изменения
10.02.2020
Постоянная ссылка
https://repository.rudn.ru/ru/records/article/record/56613/
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