Genetic aspects of primary hyperoxaluria: diagnostics and treatment


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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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作者简介

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

参考

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  7. Greed L., Willis F., Johnstone L. et al. Metabolite diagnosis of primary hyperoxaluria type 3. Pediatr. Nephrol. 2018;33(8):1443-1446.
  8. Primary hyperoxaluria mutation database [Электронный ресурс]. Режим доступа: http://www.uclh.nhs.uk/OurServices/ServiceA-Z/ PATH/PATHBIOMED/CBIO/Pages/Phmdatabase.aspx (02.06.2019).
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  10. Aryans D., Jung Y.-C., Antonopoulos D. et al. Oxalobacter formigenes - Derived Bioactive Factors Stimulate Oxalate Transport by Intestinal Epithelial Cells. J. Am. Soc. Nephrol. 2017;28(3):876-887.
  11. Milliner D., Hoppe B., Groothoff J. A randomised Phase II/III study to evaluate the efficacy and safety of orally administered Oxalobacter formigenes to treat primary hyperoxaluria. Urolithiasis. 2018;46(4): 313-323.
  12. Hulton S.A. The primary hyperoxalurias: A practical approach to diagnosis and treatment. Int. J. Surg. 2016;36(PD):649-654.
  13. Büscher R., Büscher A.K., Cetiner M. et al. Combined liver and kidney transplantation and kidney after liver transplantation in children: Indication, postoperative outcome, and long-term results. Pediatr. Transplant. 2015;19(8):858-865

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