alpha-1 antitrypsin deficiency


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alpha-1 antitrypsin deficiency

An inherited condition–frequency, ±1:10,000, characterized by low or absent production of alpha-1 antitrypsin, an enzyme which is critical to tissue remodeling Clinical The PiZZ phenotype is characterized by early-onset emphysema and liver-related symptoms—jaundice, cholestasis, fatigue, cirrhosis, liver failure, ascites, mental changes, GI bleeding, and ↑ risk of liver CA Treatment IV or nebulized prolastin if COPD, for direct delivery to lungs; alpha-1 proteinase inhibitor; liver transplant; the gene for A1AT may be transferred via adenoviruses to the lung epithelium; following transfer, A1AT mRNA is expressed as functioning A1AT Management Prolastin, O2, antibiotics, phenobarbital or cholestyramine for jaundice and itching, liver transplant
References in periodicals archive ?
Brantly et al., "The diagnosis and management of alpha-1 antitrypsin deficiency in the adult," Chronic Obstructive Pulmonary Diseases: Journal of the COPD Foundation, vol.
[10] ATSERS, "American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency," American Journal of Respiratory and Critical Care Medicine, vol.
Teckman, "Semiquantitation of Monomer And Polymer Alpha-1 Antitrypsin by Centrifugal Separation And Assay by Western Blot of Soluble and Insoluble Components," in Alpha-1 Antitrypsin Deficiency, vol.
The 2013 biopharmaceuticals business revenue was $6.6 billion, which consists of a portfolio of recombinant and plasma-based proteins to treat hemophilia and other bleeding disorders, and plasma-based therapies to treat immune deficiencies, alpha-1 antitrypsin deficiency, burns and shock, and other chronic and acute blood-related conditions.
Alpha-1 antitrypsin deficiency (AATD) is an inherited condition that produces emphysema along with features of chronic bronchitis.
They address diseases like Marfan and Goodpasture's syndromes, sarcoidosis, autoimmune pulmonary alveolar proteinosis, hereditary haemorrhagic telangiectasia, Hermansky-Pudlak syndrome, primary ciliary dyskinesia, cystic fibrosis, scleroderma lung disease, and alpha-1 antitrypsin deficiency, and their epidemiology, genetic basis and molecular pathogenesis, animal models, clinical presentation, diagnosis, conventional management and treatment strategies, and future therapies and directions.
Recommendations for expensive treatments made for a genetic disorder called alpha-1 antitrypsin deficiency should be withdrawn because the drugs have no benefit, scientists said.
Therefore, the authors concluded that targeting genes to alveolar macrophages provides a way to achieve sustained gene expression in the lung and suggest that this might provide a therapeutic approach for overcoming overcome lung diseases caused by single-gene defects, for example emphysema caused by alpha-1 antitrypsin deficiency. (ANI)
The mission of the Alpha-1 Foundation is to provide the leadership and resources that will result in increased research, improved health, worldwide detection, and a cure for Alpha-1 Antitrypsin Deficiency.
To be eligible for the trial, participants had to be white, at least 40 years of age, and current or ex-smokers with a history of 2.5 pack-years or more, and they had to have no severe alpha-1 antitrypsin deficiency.
The illness is called Alpha-1 Antitrypsin Deficiency, a genetic disorder in which a protein that helps protect the lungs can't get into the bloodstream.

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