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Alpha-1 antitrypsin deficiency
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Introduction |
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-1 antitrypsin is synthesised in the liver and protects lung
alveolar tissues from destruction by neutrophil elastase.1 -1 antitrypsin deficiency is a common autosomal recessive condition (1:1600 to 1:1800) in which liver disease results from retention of
abnormal polymerised -1 antitrypsin in the endoplasmic reticulum of
hepatocytes, and emphysema results from alveolar wall damage. The
clinical consequences of -1 antitrypsin deficiency in childhood are
haemorrhagic disease in infancy, cholestasis in infancy, or chronic
liver disease. Lung disease attributable to -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 -1
antitrypsin deficiency in adult life.2-4 Diagnostic
methods are summarised in table 1.
| Table Removed (Available Only in the Full Text) |
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Phenotypes |
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-1 antitrypsin is a protease inhibitor, and common
Pi variants have been named by their
electrophoretic mobility. PiM, of which there are several minor
variants, is the normal protein. PiZ, the mutant
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This article has been cited by other articles:
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Kelly, D A
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78: 660-667
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