Related Experiment Video
Updated: Jul 9, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Alpha1-antitrypsin deficiency: current perspective on research, diagnosis, and management
Jan Stolk1, Niels Seersholm, Noor Kalsheker
1Department of Pulmonology, Leiden University Medical Center, Leiden, The Netherlands. j.stolk.long@lumc.nl
Abstract:
The Alpha One International Registry (AIR), a multinational research program focused on alpha1-antitrypsin (AAT) deficiency, was formed in response to a World Health Organization recommendation. Each of the nearly 20 participating countries maintains a national registry of patients with AAT deficiency and contributes to an international database located in Malmö, Sweden. This database is designed to increase understanding of AAT deficiency. Additionally, AIR members are engaged in active, wide-ranging investigations to improve the diagnosis, monitoring, and treatment of the disease and meet biennially to exchange views and research findings. The fourth biennial meeting was held in Copenhagen, Denmark, on 2-3 June 2005. This review covers the wide range of AAT deficiency-related topics that were addressed encompassing advances in genetic characterization, risk factor identification, clinical epidemiology, inflammatory and signalling processes, therapeutic advances, and lung imaging techniques.
Related Concept Videos
Cystic Fibrosis: Management
Sinus disease and chronic sinusitis...
Asthma: Pathogenesis and Management
Asthma is classified as allergic and non-allergic. Allergens such as dust mites, pollen, and pet dander trigger allergic asthma, while factors like cold air, intense emotions, or exercise can induce non-allergic asthma.
Chronic Obstructive Pulmonary Disease-V: Management
Smoking Cessation
Chronic Obstructive Pulmonary Disease II: Emphysema
Chronic Obstructive Pulmonary Disease I: Introduction
Asthma-IV: Diagnostic and Management
Clinical Assessment for Asthma:
This is the first step in diagnosing and managing asthma. It includes: