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  • Title: Wilson's disease: monocentric experiences over a period of 10 years [corrected].
    Author: Prochazkova D, Pouchla S, Mejzlik V, Konecna P, Michalek J, Bartosova D, Hrstkova H.
    Journal: Klin Padiatr; 2009 Dec; 221(7):419-24. PubMed ID: 20013564.
    Abstract:
    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.
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