Wilson's disease is an autosomal recessive disorder characterised by excessive copper deposition in the tissues. Metabolic abnormalities include increased copper absorption from the small intestine and decreased hepatic copper excretion. Wilson's disease is caused by a defect in the ATP7B gene located on chromosome 13.
Features result from excessive copper deposition in the tissues, especially the brain, liver and cornea:
• liver: hepatitis, cirrhosis
• neurological: basal ganglia degeneration, speech and behavioural problems are often the first manifestations
• Kayser-Fleischer rings
• renal tubular acidosis
• haemolysis
• blue nails
Diagnosis
• reduced serum caeruloplasmin
• increased 24hr urinary copper excretion
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