Alpha-1 Antitrypsin Deficiency with Severe Pulmonary Emphysema

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Alpha-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...

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Assessment of Alpha-1 Antitrypsin Deficiency in Patients with Severe Chronic Obstructive Pulmonary Disease

Background and Aims: Chronic obstructive pulmonary disease (COPD) is a kind of pulmonary diseases characterized by chronic obstruction of lung that is in the form of a diffuse narrowing of airways resulting in air flow resistance. Alpha-1 antitrypsin (AAT) deficiency is genetically relatively common risk factor in patients with COPD throughout the world and the exact cause of its prevalence is ...

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Alpha antitrypsin deficiency and pulmonary emphysema.

An association between a genetically determined deficiency of the serum enzyme al antitrypsin and pulmonary emphysema is now well established. Serum antitryptic activity was measured in 103 patients suspected of having emphysema. Eighty-seven fulfilled the diagnostic criteria for emphysema and, of these, 16 had deficient levels, 5 had intermediate levels, and 66 had normal levels. The results o...

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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...

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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...

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ژورنال

عنوان ژورنال: Internal Medicine

سال: 2004

ISSN: 0918-2918,1349-7235

DOI: 10.2169/internalmedicine.43.223