Genetic, pathophysiological, and clinical aspects of nephrocalcinosis

Am J Physiol Renal Physiol. 2016 Dec 1;311(6):F1243-F1252. doi: 10.1152/ajprenal.00211.2016. Epub 2016 Sep 7.


Nephrocalcinosis describes the ectopic deposition of calcium salts in the kidney parenchyma. Nephrocalcinosis can result from a number of acquired causes but also an even greater number of genetic diseases, predominantly renal but also extrarenal. Here we provide a review of the genetic causes of nephrocalcinosis, along with putative mechanisms, illustrated by human and animal data.

Keywords: genetics; nephrocalcinosis; tubular physiology.

Publication types

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

MeSH terms

  • Animals
  • Calcium Oxalate / metabolism
  • Calcium Phosphates / metabolism
  • Humans
  • Kidney / metabolism
  • Kidney / pathology*
  • Nephrocalcinosis / genetics*
  • Nephrocalcinosis / metabolism
  • Nephrocalcinosis / pathology


  • Calcium Phosphates
  • Calcium Oxalate
  • calcium phosphate