Predictive value of alpha-1 antitrypsin level for Z mutation detection in chronic obstructive pulmonary disease

Research output: Contribution to journalArticle

Abstract

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.
Original languageEnglish
Pages (from-to)341-347
JournalBiologija
Volume59
Issue number4
Publication statusPublished - 2013

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alpha 1-Antitrypsin
Chronic Obstructive Pulmonary Disease
Mutation
Genotype
Nephelometry and Turbidimetry
Alleles

Keywords

  • Chronic obstructive pulmonary disease
  • Alpha-1 antitrypsin
  • Prediction value

Cite this

Predictive value of alpha-1 antitrypsin level for Z mutation detection in chronic obstructive pulmonary disease. / Serapinas, Danielius.

In: Biologija, Vol. 59, No. 4, 2013, p. 341-347.

Research output: Contribution to journalArticle

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AB - 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.

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