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

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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.

Sequencing Alpha-1 MZ Individuals Shows Frequent Biallelic Mutations

[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.

SERPINA1 mRNA as a Treatment for Alpha-1 Antitrypsin Deficiency

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.

Should Serum Protein Electrophoresis Be a Surrogate for Liver Biopsy in Some Cases of [Alpha.sub.1] Antitrypsin Deficiency?

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.

25 Baxter

Alpha-1 antitrypsin deficiency (AATD) is an inherited condition that produces emphysema along with features of chronic bronchitis.

Expert: screen for AATD in select lung patients: testing for alpha-1 antitrypsin deficiency allows for early treatment and lifestyle changes

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.

Molecular basis of pulmonary disease; insights from rare lung disorders

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.

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)

Single gene mutations linked to lung disease risk

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.

ALPHA-1 TO GET $1 MILLION IN MATCHING FUNDS FROM TALECRIS

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.

Low-level smoking more damaging to women than men

Alpha-1 antitrypsin deficiency and pancreatitis in a juvenile.

Pancretic disease in cystic fibrosis and alpha-1 antitrypsin deficiency/kistik fibroz ve alfa-1 antitripsin eksiklioinde pankreatik tutulum

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.

Woman's `good life' is all relevant