文章基本信息

标题：Alpha- 1 Antitrypsin Deficiency in Children: Pulmonary Involvement
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作者：Mohammad Esmaeili ; Marjan Esmaeili esmaeili_ @yahoo.com ; Sayed Javad Sayedi 等
期刊名称：International Journal of Pediatrics
印刷版ISSN：2345-5047
电子版ISSN：2345-5055
出版年度：2015
卷号：3
期号：1.2
页码：459-465
语种：English
出版社：Mashhad University of Medical Sciences
其他摘要：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 dyspnea, wheezing, productive cough and repeated hospital admission due to bronchopneumonia. There was no immune deficiency, sinusitis and allergic lung disease. There was no history of foreign body aspiration. Cystic fibrosis cause ruled out. Protein electrophoresis and serum level α1-AT evaluation documented α1-ATD. The patient was treated with conservative management. Conclusion: This article suggests that if a child presents with chronic pulmonary symptoms, possibility of α1-ATD should be considered and worked up.
其他关键词：Alpha-1 antitrypsin deficiency; Bronchiectasis; Children; Emphysema; Lung disease; Pulmonary disease