title: Hypercalciuria and nephrocalcinosis, a feature of Wilson's disease.
abstract: Hypercalciuria and nephrocalcinosis are not uncommon in patients with Wilson's disease but have only once been reported as the presenting sign. We diagnosed Wilson's disease in a 17-year-old male patient 6 years after his first episode of gross hematuria and 2 years after detection of hypercalciuria and nephrocalcinosis. Therapy with penicillamine resulted only in a moderate reduction of urinary calcium excretion but oxalate excretion increased.
authors.affiliation: University Children's Hospital, Zurich, Switzerland.
authors.forename: B
authors.initials: B
authors.lastname: Hoppe
authors.forename: T
authors.initials: T
authors.lastname: Neuhaus
authors.forename: A
authors.initials: A
authors.lastname: Superti-Furga
authors.forename: I
authors.initials: I
authors.lastname: Forster
authors.forename: E
authors.initials: E
authors.lastname: Leumann
mesh_terms: D000293:Adolescent; D002118:Calcium / Q000652:urine*; D006417:Hematuria / Q000175:diagnosis; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000188:drug therapy / Q000652:urine*; D006801:Humans; D007669:Kidney Calculi / Q000175:diagnosis; D008297:Male; D009397:Nephrocalcinosis / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000188:drug therapy; D010070:Oxalates / Q000652:urine; D019815:Oxalic Acid; D010396:Penicillamine / Q000627:therapeutic use; D013997:Time Factors; D014463:Ultrasonography
chemical_list: D010070:Oxalates; D019815:Oxalic Acid; D010396:Penicillamine; D002118:Calcium