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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Abstract
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 |
| 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 Feb 2013 16:47 |
| 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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