open access

Vol 81, No 1 (2013)
REVIEWS
Published online: 2012-12-13
Submitted: 2013-02-22
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Genetic variants of alpha-1 antitrypsin: classification and clinical implications

Beata Popławska, Sabina Janciauskiene, Joanna Chorostowska-Wynimko
Pneumonol Alergol Pol 2013;81(1):45-54.

open access

Vol 81, No 1 (2013)
REVIEWS
Published online: 2012-12-13
Submitted: 2013-02-22

Abstract

Inherited alpha-1 antitrypsin deficiency is listed among the three most common genetic disorders in Caucasians. It considerably increases the risk of progressive obstructive lung diseases, mostly chronic obstructive pulmonary disease, as well as chronic liver disorders, hepatitis, cirrhosis, and cancer. It is estimated that more than 5.5% of the Polish population carries one of the most common deficiency phenotypes, which might be relatively easily detected due to low alpha-1 antitrypsin serum concentration. However, as well as being quantitative, alpha-1 antitrypsin deficiency might also be qualitative. These dysfunctional alpha-1 antitrypsin variants are characterized by scarce antiproteolytic activity and quite often by fully effective protein production resulting in normal serum levels. Consequently, dysfunctional variant identification is possible only by means of pheno- or genotyping. This review presents clinically useful characteristics of main genetic alpha-1 antitrypsin variants.

Abstract

Inherited alpha-1 antitrypsin deficiency is listed among the three most common genetic disorders in Caucasians. It considerably increases the risk of progressive obstructive lung diseases, mostly chronic obstructive pulmonary disease, as well as chronic liver disorders, hepatitis, cirrhosis, and cancer. It is estimated that more than 5.5% of the Polish population carries one of the most common deficiency phenotypes, which might be relatively easily detected due to low alpha-1 antitrypsin serum concentration. However, as well as being quantitative, alpha-1 antitrypsin deficiency might also be qualitative. These dysfunctional alpha-1 antitrypsin variants are characterized by scarce antiproteolytic activity and quite often by fully effective protein production resulting in normal serum levels. Consequently, dysfunctional variant identification is possible only by means of pheno- or genotyping. This review presents clinically useful characteristics of main genetic alpha-1 antitrypsin variants.
Get Citation

Keywords

alpha-1 antitrypsin deficiency; genetic variants of alpha-1 antitrypsin; chronic obstructive pulmonary disease

About this article
Title

Genetic variants of alpha-1 antitrypsin: classification and clinical implications

Journal

Advances in Respiratory Medicine

Issue

Vol 81, No 1 (2013)

Pages

45-54

Published online

2012-12-13

Bibliographic record

Pneumonol Alergol Pol 2013;81(1):45-54.

Keywords

alpha-1 antitrypsin deficiency
genetic variants of alpha-1 antitrypsin
chronic obstructive pulmonary disease

Authors

Beata Popławska
Sabina Janciauskiene
Joanna Chorostowska-Wynimko

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