Genetic factors for monogenic forms of calcium urolithiasis


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Abstract

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.

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About the authors

T. V Filippova

I.M. Sechenov First MSMU of Minzdrav of Russia (Sechenov University)

Email: dr.filippova@maiI.ru
Dr.Med.Sci., Prof. at the Department of Medical Genetics, Medical Faculty

M. M Litvinova

I.M. Sechenov First MSMU of Minzdrav of Russia (Sechenov University); CRI of Epidemiology of Rospotrebnadzor; A.S. Loginov MCRC of MHD

Email: mariya.litvinova@gmail.com
Ph.D., Associate Prof. at the Department of Medical Genetics, Medical Faculty

V. I Rudenko

I.M. Sechenov First MSMU of Minzdrav of Russia (Sechenov University)

Email: rudenko-vadim@rambler.ru
Dr.Med.Sci., Prof. at the Department of Urology, Head of the Department of X-ray-shock wave extracorporeal lithotripsy, UCH №2

Z. K Gadzhieva

I.M. Sechenov First MSMU of Minzdrav of Russia (Sechenov University)

Dr.Med.Sci.

L. M Rapoport

I.M. Sechenov First MSMU of Minzdrav of Russia (Sechenov University)

Dr.Med.Sci., Professor, Deputy Director for Clinical Care of the Research Institute for Uronephrology and Human Reproductive Health

Yu. B Kazilov

Hospital of the MIA of the RF for the Republic of Dagestan

Email: dagurolog@mail.ru
Ph.D, Urologist

A. Yu Asanov

I.M. Sechenov First MSMU of Minzdrav of Russia (Sechenov University)

Email: asanov@mmascience.ru
Dr.Med.Sci., Prof., Head of the Department of Medical Genetics, Medical Faculty

T. I Subbotina

I.M. Sechenov First MSMU of Minzdrav of Russia (Sechenov University)

Email: kuha48@yandex.ru
Ph.D., Associate Prof., Head of the Academic Part of the Department of Medical Genetics, Medical Faculty

K. F Khafizov

CRI of Epidemiology of Rospotrebnadzor

Email: kkhafizov@gmail.com
Ph.D.(bio.sci.), Head of the Scientific Group for the Development of New Diagnostic Methods Based on Sequencing Technology of the Department of Molecular Diagnostics and Epidemiology CRI of Epidemiology of Rospotrebnadzor

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