Predictive value of alpha-1 antitrypsin level for Z mutation detection in chronic obstructive pulmonary disease
Author(s) | ||
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Lietuvos sveikatos mokslų universitetas | ||
Sakalauskas, Raimundas | Lietuvos sveikatos mokslų universitetas |
Nature Publishing Group |
Date Issued |
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2014 |
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 alpha1-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 PIZ 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. The results of the present study support the general concept of targeted screening for AAT deficiency with adequate laboratory methods in European countries with PIZ high frequency and large population of COPD patients with highest diagnostic value - AAT genotyping. A case detection programme of alpha-1 antitrypsin deficiency in patients with chronic obstructive pulmonary disease using quantitative methods could be used only in screening programs and exact diagnosis must be confirmed by determining AAT genotype.
Journal | IF | AIF | AIF (min) | AIF (max) | Cat | AV | Year | Quartile |
---|---|---|---|---|---|---|---|---|
EUROPEAN JOURNAL OF HUMAN GENETICS | 4.349 | 4.206 | 4.149 | 4.263 | 2 | 1.038 | 2014 | Q1 |
Journal | IF | AIF | AIF (min) | AIF (max) | Cat | AV | Year | Quartile |
---|---|---|---|---|---|---|---|---|
EUROPEAN JOURNAL OF HUMAN GENETICS | 4.349 | 4.206 | 4.149 | 4.263 | 2 | 1.038 | 2014 | Q1 |
Journal | Cite Score | SNIP | SJR | Year | Quartile |
---|---|---|---|---|---|
European Journal of Human Genetics | 7.1 | 1.422 | 2.004 | 2014 | Q1 |