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Wilson disease
Pathogenesis
• Autosomal recessive mutation of ATP7B → hepatic copper
accumulation → leak from damaged hepatocytes → deposits in
tissues (eg, basal ganglia, cornea)
Clinical
findings
• Hepatic (acute liver failure, chronic hepatitis, cirrhosis)
• Neurologic (parkinsonism, gait disturbance, dysarthria)
• Psychiatric (depression, personality changes, psychosis)
Diagnosis
• ↓ Ceruloplasmin & ↑ urinary copper excretion
• Kayser-Fleischer rings on slit-lamp examination
• ↑ Copper content on liver biopsy
Treatment
• Chelators (eg, D-penicillamine, trientine)
• Zinc (interferes with copper absorption)

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Wilson disease HY

  • 1. Wilson disease Pathogenesis • Autosomal recessive mutation of ATP7B → hepatic copper accumulation → leak from damaged hepatocytes → deposits in tissues (eg, basal ganglia, cornea) Clinical findings • Hepatic (acute liver failure, chronic hepatitis, cirrhosis) • Neurologic (parkinsonism, gait disturbance, dysarthria) • Psychiatric (depression, personality changes, psychosis) Diagnosis • ↓ Ceruloplasmin & ↑ urinary copper excretion • Kayser-Fleischer rings on slit-lamp examination • ↑ Copper content on liver biopsy Treatment • Chelators (eg, D-penicillamine, trientine) • Zinc (interferes with copper absorption)