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

单词	alpha-1 antitrypsin deficiency
释义	alpha-1 antitrypsin deficiency 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 See AATD See AATD
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