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
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.
|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|