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lüll alpha1-Antitrypsin deficiency 6: new and emerging treatments for alpha1-antitrypsin deficiency Sandhaus RAThorax 2004[Oct]; 59 (10): 904-9Alpha-1-antitrypsin (AAT) deficiency is a genetic condition that increases the risk of developing lung and liver disease, as well as other associated conditions. Most treatment of affected individuals is not specifically directed at AAT deficiency but focuses on the resultant disease state. The only currently available specific therapeutic agent-namely, intravenous augmentation with plasma derived AAT protein-is marketed in a limited number of countries. Treatments aimed at correcting the underlying genetic abnormality, supplementing or modifying the gene product, and halting or reversing organ injury are now beginning to emerge. These innovative approaches may prove effective at modifying or eliminating diseases association with AAT deficiency.|Humans[MESH]|Liver Diseases/etiology/therapy[MESH]|Mutation/genetics[MESH]|Pulmonary Emphysema/etiology/therapy[MESH]|Risk Factors[MESH]|alpha 1-Antitrypsin Deficiency/genetics/*therapy[MESH] |