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Genetic, Pathophysiological and Clinical Aspects of Nephrocalcinosis

Oliveira, B; Kleta, R; Bockenhauer, D; Walsh, SB; (2016) Genetic, Pathophysiological and Clinical Aspects of Nephrocalcinosis. American Journal of Physiology - Renal Physiology , 311 (6) F1243-F1252. 10.1152/ajprenal.00211.2016. Green open access

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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 extra-renal. Here we provide a review of the genetic causes of nephrocalcinosis, along with putative mechanisms, illustrated by human and animal data.

Type: Article
Title: Genetic, Pathophysiological and Clinical Aspects of Nephrocalcinosis
Open access status: An open access version is available from UCL Discovery
DOI: 10.1152/ajprenal.00211.2016
Publisher version: http://doi.org/10.1152/ajprenal.00211.2016
Language: English
Additional information: Copyright © 2016, American Journal of Physiology-Renal Physiology.
Keywords: Genetics, nephrocalcinosis, physiology, renal tubule
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Renal Medicine
URI: https://discovery.ucl.ac.uk/id/eprint/1516371
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