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.
Material and Method: 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%), Coombsnegative 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.
Conclusion: 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.

Keywords: Liver disease, Cirrhosis, Wilson’s disease, Copper, ATP7B