Mark F. Gourley, Glenn R. Gourley, Enid F. Gilbert, Gerard B. Odell

α1‐Antitrypsin Deficiency and the PiMS Phenotype

  • Gastroenterology
  • Pediatrics, Perinatology and Child Health

We describe a premature infant with cholestatic liver disease and protease inhibitor MS phenotype. This infant demonstrated an abnormally low serum α1‐antitrypsin concentration. Liver histologic studies revealed diastase‐resistant, periodic acid‐Schiff‐positive globules inside hepatocytes. Immunoperoxidase staining for α1‐antitrypsin was positive. Electron microscopy showed amorphous material in the dilated lumina of the endoplasmic reticulum. These findings are characteristic of α1‐antitrypsin deficiency. We suggest that this usually nonpathologic phenotype resulted in cholestatic liver disease because of the cumulative effect of several cholestatic conditions.

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