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

M F Gourley1, G R Gourley, E F Gilbert

  • 1Department of Medicine, University of Wisconsin School of Medicine, Madison.

Journal of Pediatric Gastroenterology and Nutrition
|January 1, 1989
PubMed

Insights

A premature infant with alpha 1-antitrypsin deficiency and a specific protease inhibitor MS phenotype developed cholestatic liver disease. This suggests the phenotype, combined with other factors, can cause severe liver issues in infants.

Area of Science:

  • Pediatric Gastroenterology
  • Hepatology
  • Genetic Disorders

Background:

  • Alpha 1-antitrypsin deficiency is a genetic disorder.
  • The protease inhibitor MS phenotype is typically considered nonpathologic.
  • Cholestatic liver disease in premature infants requires understanding underlying causes.

Observation:

  • A premature infant presented with cholestatic liver disease.
  • The infant had an abnormally low serum alpha 1-antitrypsin concentration.
  • Liver histology showed characteristic diastase-resistant, PAS-positive globules in hepatocytes.

Findings:

  • Immunoperoxidase staining confirmed alpha 1-antitrypsin within the globules.
  • Electron microscopy revealed amorphous material in the endoplasmic reticulum.
  • These histopathological findings are diagnostic of alpha 1-antitrypsin deficiency.

Implications:

  • The study links a specific alpha 1-antitrypsin deficiency phenotype (MS) to cholestatic liver disease.
  • It highlights the potential for cumulative effects of cholestatic conditions to trigger severe liver disease.
  • This case underscores the importance of considering genetic factors in infant liver disease.

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