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alpha-1 antitrypsin deficiency |
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alpha-1 antitrypsin deficiency An inherited condition–frequency, ±1:10,000, characterized by low or absent production of alpha-1 antitrypsin, an enzyme which is critical to tissue remodeling Clinical The PiZZ phenotype is
characterized by early-onset emphysema and liver-related symptoms—jaundice, cholestasis, fatigue, cirrhosis, liver failure, ascites, mental changes, GI bleeding, and ↑ risk of liver CA Treatment IV or nebulized prolastin if COPD, for
direct delivery to lungs; alpha-1 proteinase inhibitor; liver transplant; the gene for A1AT may be transferred via adenoviruses to the lung epithelium; following transfer, A1AT mRNA is expressed as functioning A1AT Management Prolastin,
O2, antibiotics, phenobarbital or cholestyramine for jaundice and itching, liver transplant How to thank TFD for its existence? Tell a friend about us, add a link to this page, add the site to iGoogle, or visit webmaster's page for free fun content. |
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| ? Mentioned in | ? References in periodicals archive | |
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Despite these successful results, Crystal predicts that emphysema
caused by alpha 1-antitrypsin deficiency will probably not be the first
human disease treated by nasally administered gene therapy, since the
disease is already treatable by other means. Alpha 1-antitrypsin deficiency in Europe:
geographical distribution of Pi types S and Z. |
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