Hereditary alpha-1-antitrypsin deficiency and its clinical consequences
نویسندگان
چکیده
منابع مشابه
Hereditary 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 ...
متن کاملHereditary of Alpha-1-Antitrypsin Deficiency
In this review article, in addition to the clinical manifestation of the alpha 1 antitrypsin deficiency, the genetics and molecular diagnosis of the disease and the effects of the causative mutations were reviewed.
متن کاملAlpha 1 antitrypsin deficiency.
Alpha-1 antitrypsin deficiency is an inherited disorder that may cause severe lung and liver disease.
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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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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...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2008
ISSN: 1750-1172
DOI: 10.1186/1750-1172-3-16