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Rare alpha-1-antitrypsin phenotypes and liver-test abnormalities during infancy

K Pittschieler1

  • 1Department of Paediatrics, Regional Hospital, Bozen, Italy. pediat@asbz.provincia.bz.it

Acta Paediatrica (Oslo, Norway : 1992)
|May 3, 2001
PubMed

Insights

Neonatal screening identified rare alpha-1-antitrypsin (alpha1-AT) deficiency carriers. Early detection of PiFZ and PiPZ phenotypes allows for interventions to mitigate risks like pulmonary emphysema.

Area of Science:

  • Medical Genetics
  • Neonatal Screening
  • Pulmonary Medicine

Background:

  • Alpha-1-antitrypsin (alpha1-AT) deficiency is a genetic condition increasing risk for lung and liver diseases.
  • Neonatal screening is crucial for early identification of genetic disorders.
  • Phenotyping allows for the identification of specific alpha1-AT alleles.

Purpose of the Study:

  • To evaluate the effectiveness of neonatal screening for alpha-1-antitrypsin (alpha1-AT) alleles.
  • To identify infants with abnormal alpha1-AT phenotypes and assess associated risks.
  • To determine the prevalence of rare alpha1-AT phenotypes in a Northern Italian population.

Main Methods:

  • Analysis of 71,675 dried blood samples from neonatal screening over 14 years.
  • Isoelectric focusing used to determine alpha1-AT alleles.
  • Liver enzymes (alanine aminotransferase, gamma-glutamyltransferase) measured in infants with abnormal phenotypes.

Main Results:

  • Identified 17 PiMV, 11 PiMF, 11 PiMP, 5 PiMN, 3 PiMR, 3 PiFZ, 2 PiPZ, and 1 PiMG phenotypes.
  • Two infants (PiMV, PiFZ) showed elevated liver enzymes.
  • PiFZ and PiPZ carriers had low alpha1-AT levels (0.78 and 0.85 g/L), indicating a risk for pulmonary emphysema.

Conclusions:

  • Neonatal screening based on phenotyping is effective in early detection of rare alpha1-AT deficiency carriers.
  • Early identification of at-risk individuals (e.g., PiFZ, PiPZ) enables preventative measures, such as discouraging smoking.
  • This screening approach facilitates timely medical intervention for alpha1-AT deficiency.
Abstract

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