title: Wilson's disease in southern Brazil: a 40-year follow-up study.
abstract: BACKGROUND
  Long-term data on the clinical follow-up and the treatment effectiveness of Wilson's disease are limited because of the low disease frequency. This study evaluated a retrospective cohort of Wilson's disease patients from southern Brazil during a 40-year follow-up period.
  
  
  METHODS
  Thirty-six Wilson's disease patients, diagnosed from 1971 to 2010, were retrospectively evaluated according to their clinical presentation, epidemiological and social features, response to therapy and outcome.
  
  
  RESULTS
  Examining the patients' continental origins showed that 74.5% had a European ancestor. The mean age at the initial symptom presentation was 23.3 ± 9.3 years, with a delay of 27.5 ± 41.9 months until definitive diagnosis. At presentation, hepatic symptoms were predominant (38.9%), followed by mixed symptoms (hepatic and neuropsychiatric) (30.6%) and neuropsychiatric symptoms (25%). Kayser-Fleischer rings were identified in 55.6% of patients, with a higher frequency among those patients with neuropsychiatric symptoms (77.8%). Eighteen patients developed neuropsychiatric features, most commonly cerebellar syndrome. Neuroradiological imaging abnormalities were observed in 72.2% of these patients. Chronic liver disease was detected in 68% of the patients with hepatic symptoms. 94.2% of all the patients were treated with D-penicillamine for a mean time of 129.9 ± 108.3 months. Other treatments included zinc salts, combined therapy and liver transplantation. After initiating therapy, 78.8% of the patients had a stable or improved outcome, and the overall survival rate was 90.1%.
  
  
  CONCLUSIONS
  This study is the first retrospective description of a population of Wilson's disease patients of mainly European continental origin who live in southern Brazil. Wilson's disease is treatable if correctly diagnosed, and an adequate quality of life can be achieved, resulting in a long overall survival.
authors.affiliation: Gastroenterology and Hepatology Service, Internal Medicine Department, Federal University of Parana, Curitiba, Paraná, Brazil. ricsdebem@gmail.com
authors.forename: Ricardo Schmitt de
authors.initials: RS
authors.lastname: Bem
authors.forename: Dominique Araujo
authors.initials: DA
authors.lastname: Muzzillo
authors.forename: Marta Mitiko
authors.initials: MM
authors.lastname: Deguti
authors.forename: Egberto Reis
authors.initials: ER
authors.lastname: Barbosa
authors.forename: Lineu César
authors.initials: LC
authors.lastname: Werneck
authors.forename: Hélio Afonso Ghizoni
authors.initials: HA
authors.lastname: Teive
mesh_terms: D000293:Adolescent; D000328:Adult; D017677:Age Distribution; D000367:Age Factors; D001938:Brazil / Q000453:epidemiology; D002614:Chelating Agents / Q000627:therapeutic use; D002648:Child; D005260:Female; D005500:Follow-Up Studies; D006527:Hepatolenticular Degeneration / Q000453:epidemiology / Q000208:ethnology / Q000473:pathology / Q000628:therapy*; D006801:Humans; D008099:Liver / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010396:Penicillamine / Q000627:therapeutic use; D012189:Retrospective Studies; D017678:Sex Distribution; D015996:Survival Rate; D013997:Time Factors; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D002614:Chelating Agents; D010396:Penicillamine