Аннотация:
The article presents pooled results of domestic and international studies investigating genetic aspects of urolithiasis associated with impaired calcium metabolism. The review highlights the importance of early and accurate diagnosis of hereditary diseases associated with kidney stone formation. Of more than 80 currently known monogenic forms of urolithiasis, the authors provide the list of the most significant forms. Using such molecular genetic methods as NGS (next generation sequencing) allows accurate detection of the genetic cause of the disease, develop an individual approach the patients management and timely prevention of the disease among the relatives of the proband.
Filippova T.V.
Litvinova M.M.
Rudenko V.I.
Gadzhieva Z.K.
Rapoport L.M.
Kazilov Y.B. Yu B
Asanov A.Y. A Yu
Subbotina T.I.
Khafizov K.F.
I.M. Sechenov First MSMU of Minzdrav of Russia Moscow, Russia.
CRI of Epidemiology of Rospotrebnadzor, Moscow, Russia.
A.S. Loginov MCRC of MHD, Moscow, Russia.
Genetic factors for monogenic forms of calcium urolithiasis
Текст визуальный электронный
Urologiia (Moscow, Russia : 1999)
№ 4 С. 154-160
2018
genetic diagnostics
genetic factors
hereditary forms
mutations
nephrolithiasis
prevention
urolithiasis
Статья
Calcium D01.268.552.100 D01.552.539.288 D23.119.100
Кальций D01.268.552.100 D01.552.539.288 D23.119.100
Humans B01.050.150.900.649.313.988.400.112.400.400
Человек B01.050.150.900.649.313.988.400.112.400.400
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
Уролитиаз C12.050.351.968.967 C12.200.777.967 C12.950.967
Journal Article V02.600
Журнальная статья V02.600
The article presents pooled results of domestic and international studies investigating genetic aspects of urolithiasis associated with impaired calcium metabolism. The review highlights the importance of early and accurate diagnosis of hereditary diseases associated with kidney stone formation. Of more than 80 currently known monogenic forms of urolithiasis, the authors provide the list of the most significant forms. Using such molecular genetic methods as NGS (next generation sequencing) allows accurate detection of the genetic cause of the disease, develop an individual approach the patients management and timely prevention of the disease among the relatives of the proband.