Hereditary causes of kidney stones and chronic kidney disease

  title={Hereditary causes of kidney stones and chronic kidney disease},
  author={Vidar O. Edvardsson and David S. Goldfarb and John Charles Lieske and Lada Beara-Lasic and Franca Anglani and Dawn S. Milliner and Run{\'o}lfur P{\'a}lsson},
  journal={Pediatric Nephrology},
Adenine phosphoribosyltransferase (APRT) deficiency, cystinuria, Dent disease, familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), and primary hyperoxaluria (PH) are rare but important causes of severe kidney stone disease and/or chronic kidney disease in children. Recurrent kidney stone disease and nephrocalcinosis, particularly in pre-pubertal children, should alert the physician to the possibility of an inborn error of metabolism as the underlying cause. Unfortunately… CONTINUE READING
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Genetic causes of kidney stones and kidney failure

  • L Beara-Lasic, V Edvardsson, R Palsson, J Lieske, D Goldfarb, D Milliner
  • Clin Rev Bone Miner Metab
  • 2011
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