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Article

Hereditary causes of kidney stones and chronic kidney disease.

Pediatric nephrology (Berlin, Germany) - 1 Oct 2013

Edvardsson Vidar O, Goldfarb David S, Lieske John C, Beara-Lasic Lada, Anglani Franca, Milliner Dawn S, Palsson Runolfur

Abstract excerpt

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...

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Identifiers

PMID: 23334384
DOI: 10.1007/s00467-012-2329-z
PMCID: PMC4138059

Genes

APRT

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