European Journal of Pediatrics

, Volume 148, Issue 1, pp 86–88 | Cite as

Neonatal screening for alpha-1-antitrypsin deficiency

  • J. Kimpen
  • E. Bosmans
  • J. Raus
Preventive Pediatrics

Abstract

The results of a neonatal screening programme for alpha-1-antitrypsin deficiency are presented. Cord blood samples with an alpha-1-antitrypsin concentration below 1.628 mg/ml, as measured by an enzyme-linked immunosorbent assay method, were phenotyped by isoelectric focusing in polyacrylamide gels. Abnormal phenotypes were found in 51% of this group as compared with 11.3% in a control group (P≪0.0001). Twenty subjects detected by the initial quantitative alpha-1-antitrypsin determination had a highly pathogenic phenotype (PiZZ, PiSS, PiSZ). In the control group only moderately affected individuals were found (PiMS, PiMZ).

Key words

Alpha-1-antitrypsin Enzyme-linked immunosorbent assay Isoelectric focusing Neonatal screening 

Abbreviations

ELISA

emzyme-linked immunosorbent assay

PAGE

polyacrylamide gel electrophoresis

HRP

horseradish peroxidase

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Copyright information

© Springer-Verlag 1988

Authors and Affiliations

  • J. Kimpen
    • 1
  • E. Bosmans
    • 1
  • J. Raus
    • 1
  1. 1.Department of Microbiology, Dr. L. Willems-InstituutUniversitaire CampusDiepenbeekBelgium

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