Alpha 1-antitrypsin deficiency and the PiMS phenotype: case report and literature review.
We describe a premature infant with cholestatic liver disease and protease inhibitor MS phenotype. This infant demonstrated an abnormally low serum alpha 1-antitrypsin concentration. Liver histologic studies revealed diastase-resistant, periodic acid-Schiff-positive globules inside hepatocytes. Immunoperoxidase staining for alpha 1-antitrypsin was positive. Electron microscopy showed amorphous material in the dilated lumina of the endoplasmic reticulum. These findings are characteristic of alpha 1-antitrypsin deficiency. We suggest that this usually nonpathologic phenotype resulted in cholestatic liver disease because of the cumulative effect of several cholestatic conditions.
Gourley
M F
MF
Department of Medicine, University of Wisconsin School of Medicine, Madison.
Gourley
G R
GR
Gilbert
E F
EF
Odell
G B
GB
D002779:Cholestasis / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D008107:Liver Diseases / Q000473:pathology*; D010641:Phenotype; D019896:alpha 1-Antitrypsin Deficiency