Recent advances in α-1-antitrypsin deficiency-related lung disease

Judith A Brebner; Robert A Stockley

doi:10.1586/ers.13.20

Recent advances in α-1-antitrypsin deficiency-related lung disease

Expert Rev Respir Med. 2013 Jun;7(3):213-29; quiz 230. doi: 10.1586/ers.13.20.

Authors

Judith A Brebner¹, Robert A Stockley

Affiliation

¹ The ADAPT Project, Lung Function and Sleep Department, University Hospital Birmingham, Mindelsohn Way, Edgbaston, Birmingham, B15 2WB, UK. j.a.brebner@bham.ac.uk

PMID: 23734645
DOI: 10.1586/ers.13.20

Abstract

α-1-antitrypsin deficiency (A1ATD) is an under-recognized hereditary disorder associated with the premature onset of chronic obstructive pulmonary disease. There is considerable heterogeneity in the phenotypic expression of lung disease in A1ATD and the pathophysiology is complex, involving the interaction of multiple pathways. Other genetic factors that may contribute to emphysema risk in A1AT-deficient individuals are beginning to be identified. Methods of monitoring disease progression have evolved, including the use of computed tomography densitometry and biomarkers of disease activity. Progress in the development of novel treatment strategies continues, including the hope for a potential cure through the use of gene therapies. In this article, the authors review the recent advances in this field and outline potential future directions of research in A1ATD.

Publication types

Review

MeSH terms

Animals
Biomarkers / metabolism
Disease Progression
Enzyme Replacement Therapy
Genetic Predisposition to Disease
Genetic Therapy
Humans
Phenotype
Protein Conformation
Pulmonary Disease, Chronic Obstructive / diagnosis
Pulmonary Disease, Chronic Obstructive / enzymology
Pulmonary Disease, Chronic Obstructive / epidemiology
Pulmonary Disease, Chronic Obstructive / genetics*
Pulmonary Disease, Chronic Obstructive / therapy
Pulmonary Emphysema / diagnosis
Pulmonary Emphysema / enzymology
Pulmonary Emphysema / epidemiology
Pulmonary Emphysema / genetics*
Pulmonary Emphysema / therapy
Respiratory System Agents / therapeutic use
Structure-Activity Relationship
Treatment Outcome
alpha 1-Antitrypsin / chemistry
alpha 1-Antitrypsin / genetics*
alpha 1-Antitrypsin / metabolism
alpha 1-Antitrypsin / therapeutic use
alpha 1-Antitrypsin Deficiency / diagnosis
alpha 1-Antitrypsin Deficiency / enzymology
alpha 1-Antitrypsin Deficiency / epidemiology
alpha 1-Antitrypsin Deficiency / genetics*
alpha 1-Antitrypsin Deficiency / therapy

Substances

Biomarkers
Respiratory System Agents
SERPINA1 protein, human
alpha 1-Antitrypsin

Supplementary concepts

Pulmonary Disease, Chronic Obstructive, Severe Early-Onset