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Serum Levels of α1-Antitrypsin Predict Phenotypic Expression of the α1-Antitrypsin Gene

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Abstract

We conducted a retrospective analysis to determine if both α1-antitrypsin serum level and phenotype need be studied when evaluating children for α1-AT deficiency. We collected data from patients less than 19 years old who had both serum α1-AT level and phenotype determined over a 9-year period (January 1992–December 2000). Eighty-eight patients were identified and 15 had the PiZZ phenotype. The serum α1-AT level was below normal (normal 85–215 mg/dl) in all 15 PiZZ patients. Seventy-two of 73 non-PiZZ patients had normal or above normal serum levels. The sensitivity of the serum α1-AT level was 100%, and the specificity was 99%. The serum α1-AT level had a positive predictive value of 94% and a negative predictive value of 100%. We conclude that serum α1-AT levels are highly predictive of the PiZZ phenotype. Determination of the serum α1-AT level alone should be the initial test when evaluating for α1-AT deficiency.

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Authors
  1. Steven J. Steiner
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  2. Sandeep K. Gupta
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  3. Joseph M. Croffie
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  4. Joseph F. Fitzgerald
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Steiner, S.J., Gupta, S.K., Croffie, J.M. et al. Serum Levels of α1-Antitrypsin Predict Phenotypic Expression of the α1-Antitrypsin Gene. Dig Dis Sci 48, 1793–1796 (2003). https://doi.org/10.1023/A:1025411515683

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