JACK LIEBERMAN, M.D.; CHARLES MITTMAN, M.D.
LIEBERMAN J, MITTMAN C. Screening for Heterozygous Alpha1-Antitrypsin Deficiency: II. Effect of Other Serum Protein Abnormalities. Ann Intern Med. 1970;73:9-13. doi: 10.7326/0003-4819-73-1-9
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Published: Ann Intern Med. 1970;73(1):9-13.
Screening to detect heterozygous alpha1-antitrypsin deficiency was done in 400 acutely and chronically ill patients without pulmonary disease. Electrophoresis of serum proteins on cellulose-acetate membranes was followed by an enzymatic assay of inhibitor on those sera with less than 0.25 g/100 ml alpha1-globulin. Forty-eight patients had gross electrophoretic abnormalities of gamma globulin, alpha2-globulin, or of total protein content with normal alpha1globulin or antitrypsin activity. This included all patients with nephrosis and cirrhosis. Seventeen patients had antitrypsin levels in the heterozygous range, and nine of these had a disease that could potentially affect protein metabolism. Adequate family studies performed in six of these nine patients substantiated the heterozygous state. No other protein abnormalities or disease states have been found to produce falsely low antitrypsin levels. The method does not falsely identify normal individuals as heterozygotes when other gross serum protein abnormalities exist.
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Gastroenterology/Hepatology, Nephrology, Pulmonary/Critical Care, Nephrotic Syndrome, Liver Disease.
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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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