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Alpha-1-antitrypsin deficiency: Diagnosis, pathophysiology, and management

✍ Scribed by Jeffrey H. Teckman; Douglas Lindblad


Book ID
107538251
Publisher
Springer
Year
2006
Tongue
English
Weight
272 KB
Volume
8
Category
Article
ISSN
1522-8037

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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.

Diagnosis of alpha-1-antitrypsin deficie
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Alpha-1-antitrypsin (AAT) deficiency is a rare genetic disorder characterized by hepatitis in neonates, childhood and adulthood (protease inhibitor (PI)\*ZZ) and emphysema with or without hepatitis (PI\*ZZ)/(PI\*SS,SZ or null) in adulthood. We report the case of a female neonate born at 40Β weeks of