Alpha One Antitrypsin Deficiency: From Gene to Treatment
نویسندگان
چکیده
منابع مشابه
Alpha one antitrypsin deficiency: from gene to treatment.
Alpha1-antitrypsin deficiency is a genetic disorder which contributes to the development of chronic obstructive pulmonary disease, bronchiectasis, liver cirrhosis and panniculitis. The discovery of alpha1-antitrypsin and its function as an antiprotease led to the protease-antiprotease hypothesis, which goes some way to explaining the pathogenesis of emphysema. This article will review the clini...
متن کاملGene therapy for alpha 1-antitrypsin deficiency.
Alpha 1-antitrypsin deficiency is associated with pulmonary emphysema and liver cirrhosis. The pathogenesis and treatment is reviewed with particular emphasis on gene therapy for emphysema. The technology of gene transfer using viruses and liposomes is developing fast and animal experiments have confirmed the feasibility of gene therapy for alpha 1-antitrypsin deficiency (AATD). So far only sub...
متن کاملAlpha 1 antitrypsin deficiency.
Alpha-1 antitrypsin deficiency is an inherited disorder that may cause severe lung and liver disease.
متن کاملAlpha One Antitrypsin Deficiency: A Pulmonary Genetic Disorder
Alpha one antitrypsin protein (A1AT), is encoded on the SERPINA1 (serpin peptidase inhibitor, claude A, member 1 gene), (OMIM 107400), located on chromosome 14q32.1 and functions as inhibitor of the enzyme neutrophil elastase. People with a low serum level of this protein are described as having the alpha-1-antrypsin deficiency (A1ATD), (OMIM #613490), one of the most common heritable disorders...
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...
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ژورنال
عنوان ژورنال: Respiration
سال: 2007
ISSN: 0025-7931,1423-0356
DOI: 10.1159/000105536