Rare alpha-1-antitrypsin phenotypes and liver-test abnormalities during infancy.
Over 14 y of neonatal screening 71,675 dried blood samples were examined for the alpha-1-antitrypsin (alpha1-AT) alleles by isoelectric focusing in the Province of Bozen, Northern Italy. In infants carrying abnormal phenotypes the liver enzymes alanine aminotransferase and gamma-glutamyltransferase were determined at 2, 5 and 12 mo of age. In 17 neonates the PiMV phenotype was found, in 11 PiMF, in 11 PiMP, in 5 PiMN, in 3 PiMR, in 3 PiFZ, in 2 PiPZ and in 1 the PiMG phenotype was found. Two infants,1 carrying the PiMV and 1 the PiFZ phenotype showed at the age of 2 and 5 mo, respectively, elevated values of the liver enzyme S-ALAT[CE1]. Only the PiFZ and PiPZ carriers displayed low enough levels of alpha1-AT of 0.78 and 0.85 g l(-1) respectively, to be at moderately increased risk of pulmonary emphysema. Their early detection through the screening should discourage them from dangerous smoking habits.


CONCLUSIONS
Only a neonatal screening based on phenotyping can detect these rare carriers early in life.
Pittschieler
K
K
Department of Paediatrics, Regional Hospital, Bozen, Italy. pediat@asbz.provincia.bz.it
D000483:Alleles; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008111:Liver Function Tests; D015997:Neonatal Screening; D010641:Phenotype; D011656:Pulmonary Emphysema / Q000235:genetics*; D012189:Retrospective Studies; D000515:alpha 1-Antitrypsin / Q000032:analysis / Q000235:genetics*; D019896:alpha 1-Antitrypsin Deficiency / Q000503:physiopathology*
C043392:SERPINA1 protein, human; D000515:alpha 1-Antitrypsin