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Beskrivelse
Wilson's disease is a rare inherited metabolic disorder resulting from pathological accumulation of copper in various tissues and organs with a predilection for the liver and central nervous system. It is characterized by its clinical heterogeneity which causes diagnostic difficulties. Several clinical manifestations can reveal the disease. Liver involvement is by far the most frequent in children. The diagnosis is based on a combination of clinical, biological and radiological findings. The prognosis is closely linked to the early diagnosis and treatment, which aims to restrict copper intake, reduce its intestinal absorption and increase its urinary excretion.
