title: Diagnosis and management of Wilson's disease: results of a single center experience.
abstract: OBJECTIVE
  To report on the diagnostic features, management, and clinical outcome after different treatments of Wilson's disease patients followed over a mean period of 15 years.
  
  
  METHODS
  Thirty-five patients with Wilson's disease referred to the University of Padova's Department of Gastroenterology for diagnosis or treatment were observed for a mean 15 years. The diagnosis was based on clinical symptoms, laboratory tests (ceruloplasmin, urinary, and hepatic copper concentrations), and uptake of the radiostable isotope Cu into the plasma protein pool. Hepatic Cu content was measured by regular follow-up biopsies. Neurologic outcome after therapy was assessed using a newly developed scoring system.
  
  
  RESULTS
  Twenty-three (65.7%) patients presented with liver disease; 12 (34.3%) had mixed neurologic and hepatic involvement. All patients had been initially treated with either penicillamine (23) or zinc sulfate (12). The neurologic symptoms became worse or remained stationary in 75% of those treated with penicillamine, whereas zinc treatment improved these symptoms in 90% of treated cases. Both treatments were effective in improving the hepatic symptoms. No differences in hepatic Cu content emerged between follow-up biopsies in either treatment group. Six patients (26%) had to abandon the penicillamine treatment due to side effects. In all, 4 patients underwent liver transplantation, which was successful in 3, with a mean survival after transplantation of 4.6 years; the fourth, who had a severe neurologic impairment, died of central pontine myelinolysis.
  
  
  CONCLUSIONS
  Penicillamine and zinc can effectively treat Wilson's disease, though the side effects of penicillamine may be severe enough to prompt its suspension. Liver transplantation remains the treatment of choice for end-stage liver disease.
authors.affiliation: Department of Surgical and Gastroenterological Sciences, Section of Gastroenterology, University of Padova, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Medici
authors.forename: Carlo Pietro
authors.initials: CP
authors.lastname: Trevisan
authors.forename: Renata
authors.initials: R
authors.lastname: D'Incà
authors.forename: Michela
authors.initials: M
authors.lastname: Barollo
authors.forename: Lucia
authors.initials: L
authors.lastname: Zancan
authors.forename: Stefano
authors.initials: S
authors.lastname: Fagiuoli
authors.forename: Diego
authors.initials: D
authors.lastname: Martines
authors.forename: Paola
authors.initials: P
authors.lastname: Irato
authors.forename: Giacomo Carlo
authors.initials: GC
authors.lastname: Sturniolo
mesh_terms: D000293:Adolescent; D000328:Adult; D000410:Alanine Transaminase / Q000097:blood / Q000187:drug effects; D015415:Biomarkers / Q000097:blood / Q000652:urine; D002570:Ceruloplasmin / Q000187:drug effects / Q000378:metabolism; D002614:Chelating Agents / Q000008:administration & dosage / Q000009:adverse effects; D002648:Child; D002675:Child, Preschool; D003300:Copper / Q000652:urine; D005260:Female; D005500:Follow-Up Studies; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000378:metabolism / Q000628:therapy*; D006801:Humans; D007554:Isotopes / Q000652:urine; D007558:Italy / Q000453:epidemiology; D016031:Liver Transplantation; D008279:Magnetic Resonance Imaging; D008297:Male; D010396:Penicillamine / Q000008:administration & dosage / Q000009:adverse effects; D011183:Postoperative Complications / Q000209:etiology / Q000401:mortality; D012720:Severity of Illness Index; D016019:Survival Analysis; D014057:Tomography, X-Ray Computed; D014131:Trace Elements / Q000627:therapeutic use; D016896:Treatment Outcome; D015032:Zinc / Q000627:therapeutic use
chemical_list: D015415:Biomarkers; D002614:Chelating Agents; D007554:Isotopes; D014131:Trace Elements; D003300:Copper; D002570:Ceruloplasmin; D000410:Alanine Transaminase; D010396:Penicillamine; D015032:Zinc