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Alpha-1 antitrypsin deficiency

Primhak, R.A. and Tanner, M.S. (2001) Alpha-1 antitrypsin deficiency. Archives of Disease in Childhood, 85 (1). pp. 2-5. ISSN 1468-2044


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α-1 antitrypsin is synthesised in the liver and protects lung alveolar tissues from destruction by neutrophil elastase. α-1 antitrypsin deficiency is a common autosomal recessive condition (1:1600 to 1:1800) in which liver disease results from retention of abnormal polymerised α-1 antitrypsin in the endoplasmic reticulum of hepatocytes, and emphysema results from alveolar wall damage. The clinical consequences of α-1 antitrypsin deficiency in childhood are haemorrhagic disease in infancy, cholestasis in infancy, or chronic liver disease. Lung disease attributable to α-1 antitrypsin deficiency does not occur in childhood, but is closely linked to smoking in adults. Membranoproliferative glomerulonephritis, panniculitis, and necrotising vasculitis are associations with α-1 antitrypsin deficiency in adult life.

Item Type: Article
Copyright, Publisher and Additional Information: Copyright © 2001 by Archives of Disease in Childhood
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > School of Medicine (Sheffield) > Clinical Sciences Division South (Sheffield)
Depositing User: Repository Officer
Date Deposited: 07 Jul 2005
Last Modified: 08 Jun 2014 13:46
Published Version: http://adc.bmjjournals.com/cgi/content/full/85/1/2
Status: Published
Refereed: Yes
Identification Number: 10.1136/adc.85.1.2
URI: http://eprints.whiterose.ac.uk/id/eprint/551

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