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alpha-1 antitrypsin deficiency
(redirected from Alpha 1-antitrypsin deficiency)

   Also found in: Wikipedia 0.01 sec.
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


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The research is being applied to diseases such as cystic fibrosis, a genetic lung and liver disorder called alpha 1-antitrypsin deficiency, inherited metabolic disorders such as lysosomal storage disease, and a fatal progressive nerve disease called Canavan disease; as well as eye disorders such as retinal and macular degeneration.
The writer added: "He has had Alpha 1-antitrypsin deficiency for years but it's gotten worse.
Chronic 'cryptogenic' liver disease and malignant hepatoma in intermediate alpha 1-antitrypsin deficiency identified by a PiZ-specific monoclonal antibody.
 
 
 
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