[Genetic aspects of urolithiasis]

Urologiia. 2016 Apr:(2 Suppl 2):95-102.
[Article in Russian]

Abstract

The article presents summarized results of domestic and international studies of the genetic aspects of urolithiasis. The presented evidence suggests the importance of early and accurate molecular genetic diagnostics of hereditary diseases associated with stone formation for timely treatment and prevention for patients' relatives. Also provided are examples of using molecular genetic diagnostics in urologist's practice for monogenic and multifactorial diseases associated with stone formation. Taken together, these results show that using modern post-genomic technologies for assessing the risk of hereditary predisposition to urolithiasis is justified.

Keywords: molecular genetic diagnostics of urolithiasis; mutations; prevention; urolithiasis candidate genes.

Publication types

  • Review

MeSH terms

  • Animals
  • Genetic Predisposition to Disease*
  • Humans
  • Urolithiasis / genetics*
  • Urolithiasis / metabolism