title: Wilson's Disease in Thai Children between 2000 and 2012 at King Chulalongkorn Memorial Hospital.
abstract: OBJECTIVE
  Wilson's disease (WD) is a rare autosomal recessive disorder characterized by copper accumulation. Clinical presentations are extraordinarily diverse, and currently no single diagnostic test can confirm WD with high accuracy. A complete understanding of the presentations and improved diagnostic methods are important for disease management. The authors' aimed to examine disease characteristics, management, and treatment outcome of WD in children, especially when genetic analysis and liver copper measurements were limited.
  
  
  METHODS
  Data was collected from 21 WD children who were treated at King Chulalongkorn Memorial Hospital between 2000 and 2012. Inclusion criteria followed the WD scoring system, where other liver diseases are ruled out systematically.
  
  
  RESULTS
  The mean age at diagnosis was 13.5 ± 3.36 years, with 19 symptomatic patients, and two asymptomatic individuals who were diagnosed through family screening. Presentations varied, jaundice (52%), ascites (52%), edema (52%), Coombs-negative hemolytic anemia (14%), neurological abnormalities (33%), renal involvement (19%), and fulminant hepatic failure (5%). Based on the key parameters in WD scoring system, 14 patients (66%) had Kayser-Fleischer (KF) rings. Seventeen (89%) had low serum ceruloplasmin, and 20 (95%) had increased urinary copper excretion. These positive findings made WD scoring system accurately diagnose 66% of patients. Chelation therapy was the first line of therapy for all patients except one, who underwent liver transplantation. After therapy, liver function test returned to normal in all patients. However, neurological symptoms did not improve with combined drug therapy using chelating and neuropsychiatric agents.
  
  
  CONCLUSIONS
  WD in children mostly affected the liver WD was suspected in seven patients (34%), thus needed further investigation. Therefore, long-term follow-up in those with suspected WD is the appropriate method for diagnosis and management in limited diagnostic tests. We suggest further treatment, and use of clinical response to treatment, as a criterion for confirming the WD diagnosis.
authors.forename: Palittiya
authors.initials: P
authors.lastname: Sintusek
authors.forename: Voranush
authors.initials: V
authors.lastname: Chongsrisawat
authors.forename: Yong
authors.initials: Y
authors.lastname: Poovorawan
mesh_terms: D000293:Adolescent; D002648:Child; D019468:Disease Management; D005260:Female; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D006801:Humans; D008297:Male; D062606:Tertiary Care Centers; D013785:Thailand; D016896:Treatment Outcome