Alpha1-antitrypsin (AAT) deficiency is an under-diagnosed condition in patients with chronic obstructive pulmonary disease (COPD). The aim of our study was to evaluate predictive value of quantitative methods of alpha-1 antitrypsin for Z mutation detection in patients with chronic obstructive pulmonary disease. Ninety-one AAT deficiency genotypes (40 MZ, 39 MS, 1 SS, 3 SZ and 8 ZZ) were analysed. Calculated sensitivity of quantitative alpha-1 antitrypsin measurement by nephelometry for heterozygous PI*Z allele was 45% and for homozygous ZZ genotype – 88%. Specificity of quantitative alpha-1 antitrypsin analysis for heterozygous deficiency was 98% and for homozygous deficiency – 100%. Thus sensitivity of quantitative alpha- 1 antitrypsin analysis is higher than specificity for both – heterozygous and homozygous deficiency.
|Publication status||Published - 2013|
- Chronic obstructive pulmonary disease
- Alpha-1 antitrypsin
- Prediction value