Русский
Genetic factors for monogenic forms of calcium urolithiasis
DOI: https://dx.doi.org/10.18565/urology.2018.4.154-160
T.V. Filippova, M.M. Litvinova, V.I. Rudenko, Z.K. Gadzhieva, L.M. Rapoport, Yu.B. Kazilov, A.Yu. Asanov, T.I. Subbotina, K.F. Khafizov
1I.M. Sechenov First MSMU of Minzdrav of Russia (Sechenov University), Moscow, Russia (Rector – academician of the RAS, Dr.Med.Sci., Prof. P.V. Glybochko); 2CRI of Epidemiology of Rospotrebnadzor, Moscow, Russia; 3A.S. Loginov MCRC of MHD, Moscow, Russia
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 patient’s management and timely prevention of the disease among the relatives of the proband.
Keywords: genetic diagnostics, hereditary forms, genetic factors, nephrolithiasis, urolithiasis, mutations, prevention
About the Autors
Corresponding author: T.V. Filippova – Dr.Med.Sci., Prof. at the Department of Medical Genetics, Medical Faculty of I.M. Sechenov First MSMU of Minzdrav of Russia (Sechenov University), Moscow, Russia; e-mail: dr.filippova@mail.ru
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