Wilson disease


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  • Clinical

    • elevated LFTs with neuro symptoms
    • low serum ceruloplasmin
    • high urinary copper

  • Histology

    • copper accumulation in hepatocytes
    • hepatocyte injury: ballooning degeneration, necrosis, glycogenated nuclei, steatosis
    • early: chronic hepatitis
    • late: cirrhosis

  • Molecular

    • ATP7B mutation -> defective copper excretion
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