Genetic, pathophysiological, and clinical aspects of nephrocalcinosis.
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.
University College London, Centre for Nephrology, London, United Kingdom.
Ben
B
Oliveira
University College London, Centre for Nephrology, London, United Kingdom r.kleta@ucl.ac.uk.
Robert
0000-0002-0228-8656
R
Kleta
University College London, Centre for Nephrology, London, United Kingdom.
Detlef
D
Bockenhauer
University College London, Centre for Nephrology, London, United Kingdom.
Stephen B
SB
Walsh
D000818:Animals; D002129:Calcium Oxalate / Q000378:metabolism; D002130:Calcium Phosphates / Q000378:metabolism; D006801:Humans; D007668:Kidney / Q000378:metabolism / Q000473:pathology*; D009397:Nephrocalcinosis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology
D002130:Calcium Phosphates; D002129:Calcium Oxalate; C020243:calcium phosphate
genetics; nephrocalcinosis; tubular physiology