Genetic aspects of primary hyperoxaluria: diagnostics and treatment


Дәйексөз келтіру

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Аннотация

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.

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Авторлар туралы

T. Filippova

I.M. Sechenov First Moscow State Medical University of Ministry of Public Health of the Russian Federation (Sechenov University)

Email: dr.filippova@mail.ru

D. Svetlichnaya

I.M. Sechenov First Moscow State Medical University of Ministry of Public Health of the Russian Federation (Sechenov University); Moscow Regional Research and Clinical Institute

Email: div.swet@gmail.com

V. Rudenko

I.M. Sechenov First Moscow State Medical University of Ministry of Public Health of the Russian Federation (Sechenov University)

Email: rudenko-vadim@rambler.ru

Y. Alyaev

I.M. Sechenov First Moscow State Medical University of Ministry of Public Health of the Russian Federation (Sechenov University)

Email: ugalyaev@mail.ru

M. Shumikhina

N.F. Filatov Children’s City Hospital of Moscow Healthcare Ministry

Email: marina.shumikhina@gmail.com

M. Azova

Peoples’ Friendship University of Russia

Email: azovam@mail.ru

T. Subbotina

I.M. Sechenov First Moscow State Medical University of Ministry of Public Health of the Russian Federation (Sechenov University)

Email: subbotina@1msmu.ru

Z. Gadzhieva

I.M. Sechenov First Moscow State Medical University of Ministry of Public Health of the Russian Federation (Sechenov University)

Email: zgadzhieva@ooorou.ru

A. Asanov

I.M. Sechenov First Moscow State Medical University of Ministry of Public Health of the Russian Federation (Sechenov University)

Email: aliy@rambler.ru

M. Litvinova

I.M. Sechenov First Moscow State Medical University of Ministry of Public Health of the Russian Federation (Sechenov University); The Loginov Moscow Clinical Scientific Center of Moscow Health Department

Email: ariya.litvinova@gmail.com

Әдебиет тізімі

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