Molecular basis of alpha 1-antitrypsin deficiency and emphysema associated with the alpha 1-antitrypsin Mmineral springs allele.
نویسندگان
چکیده
منابع مشابه
Alpha 1-antitrypsin-deficiency-related emphysema.
BACKGROUND A congenital cause of emphysema resulting from alpha 1-antitrypsin (A1AT) deficiency affects 1 in 2500 individuals and could account for emphysema in 2 percent of all persons with emphysema. Individuals aged 30 to 45 years with chronic shortness of breath and coughing could have A1AT deficiency. METHODS Using the key words "alpha 1-antitrypsin deficiency," "chronic obstructive pulm...
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 with severe pulmonary emphysema.
Alpha-1 antitrypsin (AAT) deficiency is a hereditary disorder characterized by an early onset of emphysema. While this disease is common in the Caucasian population, it is quite rare in Japan. To date, only 15 traits have been reported and it can be speculated that many cases of this genetic deficiency may have been overlooked. We report an additional case of AAT deficiency with severe emphysem...
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 کاملSerum alpha 1 antitrypsin and pulmonary emphysema.
Using isoelectric focusing (IEF) and radial immunodiffusion (RID) techniques, serum samples from 100 normal healthy adults and 21 patients with pulmonary emphysema were analysed to identify various alpha 1 antitrypsin phenotypes and the serum concentrations. Ten percent of the patients had low serum values. The normal or most common genetic form, MM, is the predominant phenotype in both control...
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ژورنال
عنوان ژورنال: Molecular and Cellular Biology
سال: 1990
ISSN: 0270-7306,1098-5549
DOI: 10.1128/mcb.10.1.47