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Rare alpha‐1‐antitrypsin phenotypes and liver‐test abnormalities during infancy
Author(s) -
Pittschieler K
Publication year - 2001
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.2001.tb00440.x
Subject(s) - medicine , phenotype , isoelectric focusing , allele , alpha 1 antitrypsin deficiency , gastroenterology , enzyme , genetics , gene , biology , biochemistry
Over 14 y of neonatal screening 71675 dried blood samples were examined for the alpha‐1‐antitrypsin (α 1 ‐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 α 1 ‐AT of 0.78 and 0.85 g 1 ‐1 , respectively, to be at moderately increased risk of pulmonary emphysema. Their early detection through the screening should discourage them from dangerous smoking habits. Conclusion: Only a neonatal screening based on phenotyping can detect these rare carriers early in life.