open access

Vol 76, No 4 (2008)
REVIEWS
Published online: 2008-06-22
Submitted: 2013-02-22
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Molecular diagnostics of alpha-1-antitrypsine deficiency in clinical practice

Radosław Struniawski, Adam Szpechciński, Joanna Chorostowska-Wynimko
Pneumonol Alergol Pol 2008;76(4):253-264.

open access

Vol 76, No 4 (2008)
REVIEWS
Published online: 2008-06-22
Submitted: 2013-02-22

Abstract

The deficiency of serine protease inhibitor, alpha-1-antitrypsin (AATD), is genetically determined defect that increases the risk of lung and liver disease development. The results of recent epidemiological studies indicate the overwhelming majority of individuals with alpha-1-antitrypsin deficiency still remain undiagnosed. The complete laboratory diagnosis of AATD is based on combination of quantitative and qualitative methods. The measurment of plasma/serum AAT concentration is always the initial test performed in the clinically suspected individuals. Nevertheless, only the AAT phenotype or genotype identification allows the full medical verification of the diagnosis. Among the various techniques of either AAT variant phenotyping or genotyping accepted by reference medical centers worldwide, the isoelectric focusing, real-time-PCR and restriction fragment-length polymorphism PCR (RFLP-PCR) are “considered the most effective” performed the most commonly. The AAT diagnostics in Poland still awaits for introduction into clinical routine. The aim of present review is to outline the major methods of AATD diagnosis and discuss with the special issuing of their potential benefits and disadvantages.

Abstract

The deficiency of serine protease inhibitor, alpha-1-antitrypsin (AATD), is genetically determined defect that increases the risk of lung and liver disease development. The results of recent epidemiological studies indicate the overwhelming majority of individuals with alpha-1-antitrypsin deficiency still remain undiagnosed. The complete laboratory diagnosis of AATD is based on combination of quantitative and qualitative methods. The measurment of plasma/serum AAT concentration is always the initial test performed in the clinically suspected individuals. Nevertheless, only the AAT phenotype or genotype identification allows the full medical verification of the diagnosis. Among the various techniques of either AAT variant phenotyping or genotyping accepted by reference medical centers worldwide, the isoelectric focusing, real-time-PCR and restriction fragment-length polymorphism PCR (RFLP-PCR) are “considered the most effective” performed the most commonly. The AAT diagnostics in Poland still awaits for introduction into clinical routine. The aim of present review is to outline the major methods of AATD diagnosis and discuss with the special issuing of their potential benefits and disadvantages.
Get Citation

Keywords

alpha-1-antitrypsin; deficiency; molecular diagnostics; phenotyping; genotyping; diagnostic algorithm

About this article
Title

Molecular diagnostics of alpha-1-antitrypsine deficiency in clinical practice

Journal

Advances in Respiratory Medicine

Issue

Vol 76, No 4 (2008)

Pages

253-264

Published online

2008-06-22

Bibliographic record

Pneumonol Alergol Pol 2008;76(4):253-264.

Keywords

alpha-1-antitrypsin
deficiency
molecular diagnostics
phenotyping
genotyping
diagnostic algorithm

Authors

Radosław Struniawski
Adam Szpechciński
Joanna Chorostowska-Wynimko

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