Ontology highlight
ABSTRACT:
SUBMITTER: Edvardsson VO
PROVIDER: S-EPMC4138059 | biostudies-literature | 2013 Oct
REPOSITORIES: biostudies-literature
Edvardsson Vidar O VO Goldfarb David S DS Lieske John C JC Beara-Lasic Lada L Anglani Franca F Milliner Dawn S DS Palsson Runolfur R
Pediatric nephrology (Berlin, Germany) 20130120 10
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, t ...[more]