Review article

Specificities of Wilson disease in children

Maja Marinkić ; Medicinski fakultet Sveučilišta u Rijeci, Rijeka
Irena Barbarić ; Johanniter Krankenhaus Genthin-Stendal, Klinik fuer Kinder- und Jugendmedizin, Stendal, Njemačka

Abstract

Wilson disease (hepatolenticular degeneration) is an autosomal recessive disorder of copper metabolism characterised by degenerative changes in the brain and liver, as well as Kayser-Fleischer rings in the cornea. It mostly occurs in early age. The abnormal gene for Wilson disease is localized on chromosome 13. Absence or malfunction of ATP7B protein results in decreased biliary copper excretion into bile duct. Accumulation of copper in hepatocytes causes tissue impairment. Clinical features include liver disease, progressive neurological disorders and/or psychiatric symptoms. In younger patients, hepatic involvement is more likely to be the predominant manifestation. Forms of Wilson hepatic disease include asymptomatic elevated transaminases, acute or chronic hepatitis, cirrhosis, portal hypertension and fulminate hepatic failure. Decreased ceruloplasmin levels, increased copper 24 hour urinary excretion, elevated “free” copper serum levels, elevated hepatic copper content and detectable Kayser-Fleischer corneal rings indicate Wilson disease. Hepatic copper content ≥250 μg/g dry weight (normal content is up to 50 μg/g) remains the best biochemical evidence for Wilson disease. When the diagnosis is uncertain, direct mutation analysis and haplotypes analysis should be performed. The treatment is based on continuous pharmacological therapy and, if needed, liver transplantation. Drugs used in therapy are: penicillamine, trientine, zinc and tetrathiomolybdate. Initial treatment for symptomatic patients should include penicillamine or trientine, often in combination with zinc. Children who do not respond well to pharmacological therapy or suffer from liver cirrhosis or fulminant hepatic failure should be evaluated promptly for liver transplantation.

Keywords

child; copper; Wilson disease

Hrčak ID:

118497

URI

https://hrcak.srce.hr/118497

Publication date:

3.3.2014.

Article data in other languages: croatian

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