Case finding of Alpha-1 antitrypsin deficiency: never wasted time!
نویسندگان
چکیده
منابع مشابه
Case finding of Alpha-1 antitrypsin deficiency: never wasted time!
Alpha-1 Antitrypsin Deficiency (AATD) is considered the most important genetic cause of respiratory disorders, mainly COPD in its emphysematous phenotype [1, 2]. In high risk populations, i.e. those in which a high prevalence of AATD is suspected on the ground of previous data [3], up to 2% of the cases of COPD may, in fact, be due to AATD [4]. This prompted WHO to issue a recommendation that a...
متن کاملAlpha 1 antitrypsin deficiency.
Alpha-1 antitrypsin deficiency is an inherited disorder that may cause severe lung and liver disease.
متن کاملAlpha-1 Antitrypsin Deficiency and Lung Cancer Risk: A Case-Control Study in Never-Smokers.
BACKGROUND Never-smokers comprise up to 25% of all lung cancer cases. They could have different molecular pathways for lung cancer induction compared with smokers. Alpha-1 antitrypsin (AAT) deficiency is a hereditary trait whose main characteristic is early onset of lung emphysema. Our aim is to know if AAT-deficient carriers have a higher risk of lung cancer in a study performed exclusively in...
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...
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 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ....
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ژورنال
عنوان ژورنال: Multidisciplinary Respiratory Medicine
سال: 2018
ISSN: 2049-6958,1828-695X
DOI: 10.4081/mrm.2018.86