alpha 1-antitrypsin deficiency

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alpha 1-antitrypsin deficiency

A disorder caused most frequently by a mutation in the SERPINA 1 gene, causing the Z-allele with a substitution of lysine for glutamic acid at position 342. Alpha 1-antitrypsin is mainly produced in the liver and is protective against the proteolytic enzyme neutrophil elastase that can damage the air sacs in the lungs and the cells of the liver. People with alpha 1-antitrypsin deficiency are more prone than normal to EMPHYSEMA and to certain forms of liver disease. It is responsible for 25 per cent of deaths from juvenile liver cirrhosis. A strong case has been made that this was the disease from which the composer Frédéric Chopin died.
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Her service also screens all patients for cystic fibrosis (CF) and alpha-1-antitrypsin deficiency (Alpha-1) both for levels and phenotype because they've found that even phenotypic MZ heterozygotes do not clear infection well.
Clinical features and history of the destructive lung disease associated with alpha-1-antitrypsin deficiency of adults with pulmonary symptoms.
The electrophoretic alpha-1-globin pattern of serum alpha-1-antitrypsin deficiency.
Three to 5 percent of emphysema patients have a genetic defect resulting in severe alpha-1-antitrypsin deficiency.
Severe Alpha-1-Antitrypsin Deficiency, also known as AAT Deficiency or Alpha-1, is an inherited disorder that causes a significant reduction of the serum concentration of the naturally occurring protein AAT.
Intestinal Wegener's granulomatosis in a patient with severe alpha-1-antitrypsin deficiency resulting from a unique combination of two deficiency alleles (PiZ and PiMProcida).
Koczulla's project, "Quantification of Alpha-1-Antitrypsin in Exhaled Breath Condensate of Patients with Alpha-1-Antitrypsin Deficiency, Smokers, and COPD Patients," intends to create a non-invasive tool to measure Alpha-1-Antitrypsin levels, examine correlations with markers of pulmonary inflammation, and ultimately help guide disease therapy.
Evaluation of an integrative diagnostic algorithm for the identification of people at risk for alpha-1-antitrypsin deficiency.
American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1-antitrypsin deficiency.
For many people with rare illnesses such as lysosomal storage disease, hemophilia, Guillain-Barre syndrome, and Alpha-1-antitrypsin deficiency disease, specialty pharmaceuticals represent their standard of care, keeping symptoms stable and helping to reclaim quality of life.

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