Русский
Genetic aspects of primary hyperoxaluria: epidemiology, ethiology, pathogenesis, and clinical signs of the disorder
DOI: https://dx.doi.org/10.18565/urology.2019.6.125-130
T.V. Filippova, D.V. Svetlichnaya, V.I. Rudenko, Y.G. Alyaev, E.G. Tadevosyan, M.M. Azova, T.I. Subbotina, Z.K. Gadzhieva, A.Y. Asanov, K.R. Khamidullin, A.M. Pushkarev, 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) Peoples’ Friendship University of Russia (RUDN University), Moscow, Russia; 5) Department of the Republic of Bashkortostan City clinical hospital No. 21, Ufa, Russia; 6) G.G. Kuvatov Republican Clinical Hospital, Ufa, Russia
Primary hyperoxaluria is a group of rare inherited diseases characterized by impaired oxalate metabolism with the early manifestation of urolithiasis and the development of the chronic kidney disease. The mutations in the AGXT, GRHPR, HOGA1 genes are attributable for different types of primary hyperoxaluria leading to the dysfunction of specific enzymes involved in the oxalate metabolism. The article summary the current data on the epidemiology, genetic and biochemical aspects of pathogenesis of the primary hyperoxaluria types 1-3. The variety of clinical signs and disease severity depend on the type of hyperoxaluria.
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