Alpha 1-antitrypsin deficiency and the PiMS phenotype: case report and literature review.

Abstract:

: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.

authors

Gourley MF,Gourley GR,Gilbert EF,Odell GB

doi

10.1097/00005176-198901000-00021

subject

Has Abstract

pub_date

1989-01-01 00:00:00

pages

116-21

issue

1

eissn

0277-2116

issn

1536-4801

journal_volume

8

pub_type

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