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Liver disease and heterozygous alpha-1-antitrypsin deficiency

K Pittschieler1

  • 1Department of Paediatric Gastroenterology, Regional Hospital, Bozen, Italy.

Acta Paediatrica Scandinavica
|March 1, 1991
PubMed

Insights

Protease inhibitor (Pi) phenotypes PiMZ and PiMS are linked to infant liver dysfunction in early life. Early screening for alpha-1-antitrypsin deficiency is recommended for neonatal hepatitis cases.

Area of Science:

  • Pediatrics
  • Genetics
  • Hepatology

Background:

  • Neonatal hepatitis can have varied causes.
  • Protease inhibitor (Pi) phenotypes, including PiMZ and PiMS, are genetic variations.
  • Alpha-1-antitrypsin (AAT) deficiency is a known genetic condition affecting the liver.

Purpose of the Study:

  • To investigate the association between PiMZ and PiMS phenotypes and hepatic dysfunction in newborns.
  • To determine the incidence and pattern of liver dysfunction in infants with PiMZ and PiMS phenotypes.
  • To assess the clinical utility of Pi-typing in neonatal hepatitis.

Main Methods:

  • Screening of 14,938 newborns for protease inhibitor (Pi) phenotypes between 1985-1988.
  • Identification and follow-up of infants with PiMZ (n=101) and PiMS (n=135) phenotypes.
  • Recording of clinical, biochemical, and histological data at 2, 5, and 12 months of age.

Main Results:

  • Nineteen of 101 PiMZ infants showed hepatic dysfunction at 2 months, decreasing to 1 by 12 months.
  • Twenty of 135 PiMS infants had abnormal liver function tests at 2 months, decreasing to none by 12 months.
  • Hepatic dysfunction was observed in both PiMZ and PiMS infants during the first six months of life.

Conclusions:

  • PiMZ and PiMS phenotypes are associated with hepatic dysfunction in early infancy.
  • Variability in serum alpha-1-antitrypsin levels in heterozygotes necessitates Pi-typing.
  • Pi-typing is advisable for all neonatal hepatitis cases and for screening purposes.

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