alpha1 antitrypsin deficiency


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  • Clinical

    • lung, liver

  • Histology

    • liver
      • PASD+ inclusions in periportal hepatocytes predominantly
      • infants: cholestasis, portal fibrosis, ductular reaction, ballooning degeneration
      • adults: chronic hepatitis, macronodular cirrhosis
    • lung
      • emphysema

  • Molecular

    • chromosome 14q
    • PIZZ = homozygous disease
    • PIMM = homozygous normal
    • AAT is serine protease inhibitor
    • deficiency results in damage by proteases: elastase, trypsin, chymotrypsin, thrombin
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