[Genetic aspects of primary hyperoxaluria: diagnostics and treatment]

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

[Genetic aspects of primary hyperoxaluria: diagnostics and treatment]

Urologiia. 2019 Dec:(5):140-143.

[Article in Russian]

Authors

T V Filippova^{1

2

3

4

5}, D V Svetlichnaya^{1

2

3

4

5}, V I Rudenko^{1

2

3

4

5}, Y G Alyaev^{1

2

3

4

5}, M V Shumikhina^{1

2

3

4

5}, M M Azova^{1

2

3

4

5}, T I Subbotina^{1

2

3

4

5}, Z K Gadzhieva^{1

2

3

4

5}, A Yu Asanov^{1

2

3

4

5}, M M Litvinova^{1

2

3

4

5}

Affiliations

¹ I.M. Sechenov First Moscow State Medical University of Ministry of Public Health of the Russian Federation, Moscow, Russia.
² The Loginov Moscow Clinical Scientific Center of Moscow Health Department, Moscow, Russia.
³ Moscow Regional Research and Clinical Institute, Moscow, Russia.
⁴ N.F. Filatov Childrens City Hospital of Moscow Healthcare Ministry, Moscow, Russia.
⁵ Peoples Friendship University of Russia, Moscow, Russia.

PMID: 31808650

Abstract

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: AGXT; GRHPR; HOGA1; kidney stone disease; oxalosis; primary hyperoxaluria; treatment; urolithiasis.

Publication types

Review

MeSH terms

Genetic Predisposition to Disease*
Genotype
Humans
Hyperoxaluria, Primary / diagnosis*
Hyperoxaluria, Primary / genetics*
Hyperoxaluria, Primary / therapy
Kidney / physiopathology
Kidney Calculi / genetics*
Molecular Biology
Phenotype