Alpha 1-antitrypsin deficiency. 3: Clinical manifestations and natural history.
نویسندگان
چکیده
A review of the clinical manifestations of alpha(1)-antitrypsin (AAT) deficiency, including lung disease and liver disease, and risk factors affecting the rate of decline in lung function in AAT deficient patients.
منابع مشابه
Clinical manifestations, diagnosis, and natural history of alpha-1 antitrypsin deficiency
INTRODUCTION — Alpha-1 antitrypsin (AAT) deficiency is a clinically underrecognized inherited disorder affecting the lung, liver, and rarely skin. The characteristics of the pulmonary manifestations of this disorder will be reviewed here [1-4]. Extrapulmonary disease and therapy are discussed separately. (See "Extrapulmonary manifestations of alpha-1 antitrypsin deficiency" and "Treatment of al...
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Background: One of the genetic risk factors for chronic obstructive pulmonary disease (COPD) is deficiency of Alpha-1 Antitrypsin (A1AT). There is no exact statistics about the prevalence of this disease in different regions of Iran. The present study aimed to determine the prevalence of alpha-1 antitrypsin (A1AT) deficiency in COPD patients in Kerman, Iran. Metho...
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Clinical research in rare diseases, including alpha-1 antitrypsin deficiency (AATD), faces challenges not shared by common disease research. These challenges may include the limited number of patient volunteers available for research, lack of natural history studies on which to base many clinical trial interventions, an urgency for the development of drug therapies given the often poor prognosi...
متن کاملa 1 - Antitrypsin deficiency ? 3 : Clinical manifestations and natural history
Correspondence to: Professor R A Stockley, Department of Respiratory Medicine, Queen Elizabeth Hospital, Birmingham B15 2TH, UK; r.a.stockley@ bham.ac.uk . . . . . . . . . . . . . . . . . . . . . . . I t has long been recognised that a1-antitrypsin (AAT) deficiency is associated with an increase in clinical symptoms and diseases in several systems. In this review we discuss the pulmonary and he...
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Alpha-1 antitrypsin (AAT) deficiency remains an underrecognized genetic disease with predominantly pulmonary and hepatic manifestations. AAT is derived primarily from hepatocytes; however, macrophages and neutrophils are secondary sources. As the natural physiological inhibitor of several proteases, most importantly neutrophil elastase (NE), it plays a key role in maintaining pulmonary protease...
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ورودعنوان ژورنال:
- Thorax
دوره 59 5 شماره
صفحات -
تاریخ انتشار 2004