๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Neonatal screening for alpha-1-antitrypsin deficiency

โœ Scribed by J. Kimpen; E. Bosmans; J. Raus

Publisher
Springer
Year
1988
Tongue
English
Weight
307 KB
Volume
148
Category
Article
ISSN
0340-6997

No coin nor oath required. For personal study only.

โœฆ Synopsis

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 much less than 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).

๐Ÿ“œ SIMILAR VOLUMES

Diagnosis of alpha-1-antitrypsin deficie
Diagnosis of alpha-1-antitrypsin deficiency in bleeding disorder-related neonatal death
โœ Gursah Kats-Ugurlu; Marije Hogeveen; Ann Driessen; Ans M. W. van den Ouweland; C ๐Ÿ“‚ Article ๐Ÿ“… 2010 ๐Ÿ› Springer ๐ŸŒ English โš– 202 KB

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 40ย weeks of