Alpha-1-Antitrypsin (AAT) Quantitation and Phenotype

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Alpha-1-Antitrypsin level may be increased in normal pregnancy and in several diseases including chronic pulmonary disease; hereditary angioedema; renal, gastric, liver and pancreatic diseases; diabetes; carcinomas and rheumatoid diseases. More than 40 phenotypes of AAT exist. The inherited deficiency, seen most often as the ZZ, SS and SZ phenotypes, is associated with neonatal hepatitis and infantile cirrhosis. In adults, these phenotypes are associated with chronic lung disease, including emphysema and chronic bronchitis.

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