Genetic disorders and urolithiasis

Urol Clin North Am. 2000 May;27(2):287-99, viii. doi: 10.1016/s0094-0143(05)70258-5.

Abstract

A recent analysis of the McKusick's On-Line Mendelian Inheritance in Man (OMIM) database revealed over 30 genetic or putatively genetic conditions in which urolithiasis contributes to the disease pathology at least to some extent. There is wide clinical, biochemical, and genetic heterogeneity in many of these conditions.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Calcium Oxalate / analysis
  • Calcium Phosphates / analysis
  • Cystine / analysis
  • Genotype
  • Humans
  • Mutation
  • Phenotype
  • Purines / analysis
  • Urinary Calculi / chemistry
  • Urinary Calculi / genetics*
  • Urinary Calculi / therapy

Substances

  • Calcium Phosphates
  • Purines
  • alpha-tricalcium phosphate
  • tetracalcium phosphate
  • Calcium Oxalate
  • Cystine
  • calcium phosphate, monobasic, anhydrous
  • calcium phosphate
  • calcium phosphate, dibasic, anhydrous
  • purine