title: Wilson's disease: an analysis of 28 Brazilian children.
abstract: OBJECTIVE
  Clinical-laboratory and evolutionary analysis of twenty-eight patients with Wilson's disease.
  
  
  METHODS
  Twenty-eight children (twelve females and sixteen males) with Wilson's disease were evaluated retrospectively between 1987 and 2009, with a follow-up of 72 months (1 - 240 months). The clinical, laboratory, and histologic features at diagnosis were recorded at the end of the study.
  
  
  RESULTS
  The median age at diagnosis was 11 years (2 - 18 years). Twelve patients were asymptomatic, seven had hepatitis symptoms, five had raised aminotransferase levels, three had hepatomegaly associated with neurological disorders, one had fulminant hepatitis with hemolytic anemia, and six patients presented with a Kayser-Fleischer ring. A histological analysis revealed that six children had chronic hepatitis, seven had cirrhosis, two had steatosis, one had portal fibrosis, and one had massive necrosis. The treatment consisted of D-penicillamine associated with pyridoxine for 26 patients. Adverse effects were observed in the other two patients: one presented with uncontrollable vomiting and the other demonstrated elastosis perforans serpiginosa. At the end of the study, all 26 treated patients were asymptomatic. Twenty-four of the patients were treated with D-penicillamine and pyridoxine, and two were treated with trientine and zinc sulfate. A liver transplant was performed in one patient with fulminant hepatitis, but the final patient died 48 hours after admission to the intensive care unit.
  
  
  CONCLUSIONS
  Family screenings associated with early treatment are important in preventing Wilson's disease symptoms and potentially fatal disease progression. The study suggests that Wilson's disease must be ruled out in children older than two years presenting with abnormal levels of hepatic enzymes because of the heterogeneity of symptoms and the encouraging treatment results obtained so far.
authors.affiliation: Universidade de São Paulo, São Paulo, SP, Brazil. rtkleine@hotmail.com
authors.forename: Rodolpho Truffa
authors.initials: RT
authors.lastname: Kleine
authors.forename: Renata
authors.initials: R
authors.lastname: Mendes
authors.forename: Renata
authors.initials: R
authors.lastname: Pugliese
authors.forename: Irene
authors.initials: I
authors.lastname: Miura
authors.forename: Vera
authors.initials: V
authors.lastname: Danesi
authors.forename: Gilda
authors.initials: G
authors.lastname: Porta
mesh_terms: D000293:Adolescent; D001219:Aspartate Aminotransferases / Q000097:blood; D015415:Biomarkers / Q000097:blood; D001938:Brazil; D002614:Chelating Agents / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D003300:Copper / Q000627:therapeutic use; D042241:Early Diagnosis; D005190:Family; D005260:Female; D005500:Follow-Up Studies; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000188:drug therapy / Q000517:prevention & control; D006801:Humans; D008297:Male; D008403:Mass Screening / Q000379:methods*; D012189:Retrospective Studies; D019287:Zinc Sulfate / Q000627:therapeutic use
chemical_list: D015415:Biomarkers; D002614:Chelating Agents; D019287:Zinc Sulfate; D003300:Copper; D001219:Aspartate Aminotransferases