Diagnostic delay and clinical modifiers in alpha-1 antitrypsin deficiency
نویسندگان
چکیده
منابع مشابه
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...
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 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 ...
متن کاملAlpha 1 Antitrypsin Deficiency: Etiology, Clinical Manifestations and More
Without the liver, we would not be able to metabolize some components of the food, drinks, and medications that we eat; there would be problems in hemostasis and we would not be able to properly digest the food that we eat, particularly fatty ones. These are only a few among the many contributions of the liver to homeostasis. However, there are also a lot of factors that can bring damage to the...
متن کاملHereditary alpha-1-antitrypsin deficiency and its clinical consequences
Alpha-1-antitrypsin deficiency (AATD) is a genetic disorder that manifests as pulmonary emphysema, liver cirrhosis and, rarely, as the skin disease panniculitis, and is characterized by low serum levels of AAT, the main protease inhibitor (PI) in human serum. The prevalence in Western Europe and in the USA is estimated at approximately 1 in 2,500 and 1 : 5,000 newborns, and is highly dependent ...
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ژورنال
عنوان ژورنال: Therapeutic Advances in Respiratory Disease
سال: 2010
ISSN: 1753-4666,1753-4666
DOI: 10.1177/1753465810376407