Determinants of airflow obstruction in severe alpha-1-antitrypsin deficiency

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Determinants of airflow obstruction in severe alpha-1-antitrypsin deficiency.

BACKGROUND Severe alpha(1)-antitrypsin (AAT) deficiency is an autosomal recessive genetic condition associated with an increased but variable risk for chronic obstructive pulmonary disease (COPD). A study was undertaken to assess the impact of chronic bronchitis, pneumonia, asthma and sex on the development of COPD in individuals with severe AAT deficiency. METHODS The AAT Genetic Modifier St...

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ALPHA-1-ANTITRYPSIN DEFICIENCY Determinants of airflow obstruction in severe alpha-1-antitrypsin deficiency

Dawn L DeMeo, Robert A Sandhaus, Alan F Barker, Mark L Brantly, Edward Eden, N Gerard McElvaney, Stephen Rennard, Esteban Burchard, James M Stocks, James K Stoller, Charlie Strange, Gerard M Turino, Edward J Campbell, Edwin K Silverman . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ....

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Association of IREB2 and CHRNA3 polymorphisms with airflow obstruction in severe alpha-1 antitrypsin deficiency

BACKGROUND The development of COPD in subjects with alpha-1 antitrypsin (AAT) deficiency is likely to be influenced by modifier genes. Genome-wide association studies and integrative genomics approaches in COPD have demonstrated significant associations with SNPs in the chromosome 15q region that includes CHRNA3 (cholinergic nicotine receptor alpha3) and IREB2 (iron regulatory binding protein 2...

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Assessment of Alpha-1 Antitrypsin Deficiency in Patients with Severe Chronic Obstructive Pulmonary Disease

Background and Aims: Chronic obstructive pulmonary disease (COPD) is a kind of pulmonary diseases characterized by chronic obstruction of lung that is in the form of a diffuse narrowing of airways resulting in air flow resistance. Alpha-1 antitrypsin (AAT) deficiency is genetically relatively common risk factor in patients with COPD throughout the world and the exact cause of its prevalence is ...

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Alpha- 1 Antitrypsin Deficiency in Children: Pulmonary Involvement

Introduction: α1-antitrypsin deficiency (α1-ATD) is one of the most common genetic disorders in white race, a usual cause of liver disease in children, and hepatopulmonary involvement in children and adult. The aim of this case description is presenting a child with early lung disease without liver parenchymal disorder. Case presentation: We describe a 13 year old boy because of exertional dysp...

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ژورنال

عنوان ژورنال: Thorax

سال: 2007

ISSN: 0040-6376

DOI: 10.1136/thx.2006.075846