Environmental, occupational, and genetic risk factors for alpha-1 antitrypsin deficiency.
نویسندگان
چکیده
منابع مشابه
Environmental, occupational, and genetic risk factors for alpha-1 antitrypsin deficiency.
Alpha-1 antitrypsin (AAT) deficiency is an inherited genetic disorder currently diagnosed in approximately 5,000 people in the United States. Although some individuals with AAT deficiency are asymptomatic, the condition often leads to deterioration of lung function in adults and is associated with emphysema, asthma, chronic obstructive pulmonary disease, and other respiratory diseases. In child...
متن کاملAlpha-1 Antitrypsin Deficiency – A Genetic Risk Factor for COPD
Alpha-1 antitrypsin deficiency (AATD) is a hereditary disorder characterised by low circulating levels of the key antiprotease alpha-1 antitrypsin (AAT) and is associated with the development of chronic obstructive pulmonary disease (COPD), often by the 3rd or 4th decade, and liver disease. The two most common SERPINA1 mutations associated with AATD are the Z and S mutations, and the vast major...
متن کاملGenetic Testing for Alpha-1 Antitrypsin Deficiency
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متن کاملAlpha 1 antitrypsin deficiency.
Alpha-1 antitrypsin deficiency is an inherited disorder that may cause severe lung and liver disease.
متن کاملRoutine genetic testing for alpha-1 antitrypsin deficiency
Mutations in the PI gene, located on chromosome 14, are associated with this genetic disorder. The most common deficiency alleles are PiS (1:9 1:12 carrier frequency among Caucasians) and the PiZ allele (1:30 1:40 carrier frequency among Caucasians). New data on the worldwide prevalence of AAT deficiency support the scientific community's impression that AAT deficiency is not a rare disease, bu...
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ژورنال
عنوان ژورنال: Environmental Health Perspectives
سال: 2003
ISSN: 0091-6765,1552-9924
DOI: 10.1289/ehp.6325