α1-Antitrypsin deficiency and the PiMS phenotype: Case report and literature review

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

doi:10.1097/00005176-198901000-00021

α₁-Antitrypsin deficiency and the PiMS phenotype: Case report and literature review

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

Pediatrics - Gastro, Hepatology, Nutrition

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12 Scopus citations

Abstract

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.

Original language	English (US)
Pages (from-to)	116-121
Number of pages	6
Journal	Journal of pediatric gastroenterology and nutrition
Volume	8
Issue number	1
DOIs	https://doi.org/10.1097/00005176-198901000-00021
State	Published - Jan 1989

Keywords

Cholestasis
MS phenotype
Neonatal liver disease
α-Antitrypsin deficiency

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10.1097/00005176-198901000-00021

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AB - 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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