BACKGROUND: Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism. The objective of this study is to present diagnostic pitfalls and long time follow-up data in Wilson disease. PATIENTS/METHODS: We studied 21 WD patients and 14 heterozygote carriers aged 2-43 years, retrospectively. 18 WD patients presented liver disease, three had mixed neurological and hepatic involvement and 9 patients underwent orthotopic liver transplantation (OLT). RESULTS: The median age at diagnosis of WD children without OLT was 10.16+/-3.8 (range, 5-16). All of females and younger age categories of patients prevailed in acute liver failure group. Serum ceruloplasmine levels were below 0.2 g/l in about (1/3) of WD carriers (X =0.27+/-0.09 g/l) and nearly (2/3) of children with WD (X = 0.21+/-0.13 g/l). A statistically significant difference (p<0.05) in the 24-h excretion of copper in urine was noticed between healthy controls, children with WD and WD heterozygote carriers. As diagnostic important proved the copper content of more than 250 microg/g hepatic dry weight. The Kayser-Fleischer?s ring was not observed in children. Ceruloplasmine, haemoglobin, ALT, ALP and plasma albumin were significantly different between fulminant and non-fulminant WD and could be used as indirect markers in evaluation of urgent OLT. CONCLUSION: Detection of WD in children remains very difficult. The most important investigation is liver biopsy with the assessment of liver copper. Genetic analysis may help in doubtful cases.

1st Department of Paediatrics University Hospital Brno and Faculty of Medicine Masaryk University Brno Czech Republic

Klin Padiatr. 2010 Jan;222(1):51 PubMed

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