Genetic aspects of primary hyperoxaluria: diagnostics and treatment

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.

Авторы
Filippova T.V. 1, 2, 3, 4, 5 , Svetlichnaya D.V. 1, 2, 3, 4, 5 , Rudenko V.I. 1, 2, 3, 4, 5 , Alyaev Y.G. 1, 2, 3, 4, 5 , Shumikhina M.V. 1, 2, 3, 4, 5 , Azova M.M. 1, 2, 3, 4, 5 , Subbotina T.I. 1, 2, 3, 4, 5 , Gadzhieva Z.K. 1, 2, 3, 4, 5 , Asanov A.Y. 1, 2, 3, 4, 5 , Litvinova M.M. 1, 2, 3, 4, 5
Журнал
Урология
Номер выпуска
5
Язык
Русский
Страницы
140-143
Статус
Опубликовано
Ссылка
Внешняя ссылка
Год
2019
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 N.F. Filatov Childrens City Hospital of Moscow Healthcare MinistryMoscow, Russian Federation
  • 5 Peoples Friendship University of RussiaMoscow, Russian Federation
Ключевые слова
AGXT; GRHPR; HOGA1; kidney stone disease; oxalosis; primary hyperoxaluria; treatment; urolithiasis
Дата создания
24.12.2019
Дата изменения
24.12.2019
Постоянная ссылка
https://repository.rudn.ru/ru/records/article/record/54830/
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