Postponed diagnosis of alpha-1 antitrypsin deficiency
نویسندگان
چکیده
منابع مشابه
Alpha 1 antitrypsin deficiency.
Alpha-1 antitrypsin deficiency is an inherited disorder that may cause severe lung and liver disease.
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 کاملDiagnosis of alpha-1 antitrypsin deficiency: a population-based study
INTRODUCTION Alpha-1 antitrypsin deficiency (AATD) remains an underdiagnosed condition despite initiatives developed to increase awareness. The objective was to describe the current situation of the diagnosis of AATD in primary care (PC) in Catalonia, Spain. METHODS We performed a population-based study with data from the Information System for Development in Research in Primary Care, a popul...
متن کاملAlpha-1-antitrypsin deficiency in children: clinical characteristics and diagnosis.
INTRODUCTION Alpha-1-antitrypsin deficiency (AATD) is a relatively rare and clinically very heterogeneous autosomal recessive disorder. OBJECTIVE Presentation of clinical characteristics of AATD in the first months after birth, as well as the significance of testing brothers and sisters for its presence. METHODS Objectives of the study were analyzed on a sample of eight children (four male ...
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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: Srpski arhiv za celokupno lekarstvo
سال: 2016
ISSN: 0370-8179,2406-0895
DOI: 10.2298/sarh1612676s