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

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

Research output: Contribution to journalArticlepeer-review

11 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 languageEnglish (US)
Pages (from-to)116-121
Number of pages6
JournalJournal of pediatric gastroenterology and nutrition
Volume8
Issue number1
DOIs
StatePublished - Jan 1989

Keywords

  • Cholestasis
  • MS phenotype
  • Neonatal liver disease
  • α-Antitrypsin deficiency

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