Русский
Genetic aspects of primary hyperoxaluria: diagnostics and treatment
DOI: https://dx.doi.org/10.18565/urology.2019.5.140-143
T.V. Filippova, D.V. Svetlichnaya, V.I. Rudenko, Y.G. Alyaev, M.V. Shumikhina, M.M. Azova, T.I. Subbotina, Z.K. Gadzhieva, A.Yu. Asanov, M.M. Litvinova
1) I.M. Sechenov First Moscow State Medical University of Ministry of Public Health of the Russian Federation (Sechenov University), Moscow, Russia; 2) The Loginov Moscow Clinical Scientific Center of Moscow Health Department, Moscow, Russia; 3) Moscow Regional Research and Clinical Institute (MONIKI), Moscow, Russia; 4) N.F. Filatov Children’s City Hospital of Moscow Healthcare Ministry, Moscow, Russia; 5) Peoples’ Friendship University of Russia (RUDN University), Moscow, Russia
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.
Keywords: oxalosis, primary hyperoxaluria, HOGA1, GRHPR, AGXT, kidney stone disease, urolithiasis, treatment
About the Autors
Corresponding author: D.V. Svetlichnaya – Ph.D. student at the Department of Medical Genetics of I.M. Sechenov First Moscow State Medical University of Ministry of Public Health of the Russian Federation (Sechenov University), Moscow, Russia; geneticist at the Moscow Regional Research and Clinical Institute (MONIKI, Moscow, Russia; e-mail: div.swet@gmail.com
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