Heritability of Lung Function in Severe Alpha-1 Antitrypsin Deficiency
نویسندگان
چکیده
منابع مشابه
Heritability of lung function in severe alpha-1 antitrypsin deficiency.
Severe alpha-1 antitrypsin (AAT) deficiency is a proven genetic risk factor for COPD, but there is marked variation in the development of COPD among AAT deficient subjects. To investigate familial aggregation of lung function in subjects with AAT deficiency, we estimated heritability for forced expiratory volume in 1 s (FEV1) and FEV1/forced vital capacity (FVC) in 378 AAT deficient subjects fr...
متن کاملAssessment 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 ...
متن کاملALPHA-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 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ....
متن کاملRespiratory symptoms and lung function in young adults with severe alpha(1)-antitrypsin deficiency (PiZZ).
BACKGROUND Neonatal screening for alpha(1)-antitrypsin (AAT) deficiency was undertaken in Sweden between 1972 and 1974 when 129 infants with severe AAT deficiency (phenotype PiZ) were identified. The cohort has been followed up prospectively. METHODS 124 PiZ subjects, still alive and still living in Sweden, were invited to a follow up examination at about 22 years of age. The check up include...
متن کاملAlpha- 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: Human Heredity
سال: 2009
ISSN: 1423-0062,0001-5652
DOI: 10.1159/000164397