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skos:definition |
CSP: autosomal recessive trait leading to destruction of lung tissue by neutrophil elastase and eventual emphysema; second only to cystic fibrosis as most common lethal genetic disorder among Caucasians of northern European ancestry.,MSH: Deficiency of the protease inhibitor ALPHA 1-ANTITRYPSIN that manifests primarily as PULMONARY EMPHYSEMA and LIVER CIRRHOSIS.,MEDLINEPLUS: <p>Alpha-1 antitrypsin deficiency is an inherited disorder that can cause lung disease in adults and liver disease in adults and children. Alpha-1 antitrypsin (AAT) is a protein that protects the lungs. The liver usually makes the protein, and releases it into the bloodstream. Because of a gene problem, some people have little or none of it. Not having enough AAT puts you at risk of <a href='http://www.nlm.nih.gov/medlineplus/emphysema.html'>emphysema</a> or liver problems. If you smoke, you increase your risk. Children with AAT deficiency can develop liver problems that last their whole lives. </p><p>AAT deficiency can be treated but not
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