title: Usefulness of penicillamine-stimulated urinary copper excretion in the diagnosis of adult Wilson's disease.
abstract: OBJECTIVE
  Diagnosis of Wilson's disease (WD) is reliant on liver biopsy (LB) and measurement of hepatic copper. The aim of this study was to determine the usefulness of penicillamine-stimulated urinary copper excretion (PS-UCE), a non-invasive diagnostic test, for the diagnosis of WD in adults.
  
  
  METHODS
  In this prospective study of patients with suspected WD, total serum copper, ceruloplasmin, basal 24-h UCE and PS-UCE levels were measured. LB with copper determination was performed in those patients with persistent hypertransaminasemia and low ceruloplasmin or basal UCE > 40 microg/24 h. Diagnosis was established if the ceruloplasmin level was found to be < 20 mg/dl and hepatic copper > 250 microg/g. Results. A total of 115 patients were studied; LB was performed in 43, and WD was diagnosed in 6 (13.9%). Significant differences between WD and non-WD patients were found for basal UCE (WD: median 134.3 microg/24 h versus non-WD: median 19.0 microg/24 h (p < 0.05)) and PS-UCE (WD: median 1284.0 microg/24 h versus non-WD: median 776.0 microg/24 h; p < 0.01). In the ROC (receiver-operated curve) analysis, PS-UCE was the best discriminant between WD and non-WD (area under the curve (AUC) = 0.911, best cut-off point 1057 microg/24 h, 100% sensitivity, 82.3% specificity).
  
  
  CONCLUSIONS
  PS-UCE is probably a useful non-invasive test in the diagnosis of WD, improving the selection of patients for diagnostic liver biopsy. Patients with PS-UCE under 1057 microg/24 h only rarely will suffer from WD and are unlikely to benefit from LB.
authors.affiliation: Department of Gastroenterology, Hospital Ramón y Cajal, Madrid, Spain. jforuny@yahoo.es
authors.forename: José Ramón
authors.initials: JR
authors.lastname: Foruny
authors.forename: Daniel
authors.initials: D
authors.lastname: Boixeda
authors.forename: Antonio
authors.initials: A
authors.lastname: López-Sanroman
authors.forename: Enrique
authors.initials: E
authors.lastname: Vázquez-Sequeiros
authors.forename: Mónica
authors.initials: M
authors.lastname: Villafruela
authors.forename: Manuel
authors.initials: M
authors.lastname: Vázquez-Romero
authors.forename: Miguel
authors.initials: M
authors.lastname: Rodríguez-Gandía
authors.forename: Carlos Martín
authors.initials: CM
authors.lastname: de Argila
authors.forename: Cristina
authors.initials: C
authors.lastname: Camarero
authors.forename: José María
authors.initials: JM
authors.lastname: Milicua
mesh_terms: D000293:Adolescent; D000328:Adult; D001707:Biopsy, Needle; D003300:Copper / Q000652:urine*; D005260:Female; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D008099:Liver / Q000473:pathology; D008297:Male; D010396:Penicillamine
chemical_list: D003300:Copper; D010396:Penicillamine