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

Genetic, pathophysiological, and clinical aspects of nephrocalcinosis

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Free article
Review

Genetic, pathophysiological, and clinical aspects of nephrocalcinosis

Ben Oliveira et al. Am J Physiol Renal Physiol. .
Free article

Abstract

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.

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