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.
References in periodicals archive ?
Alpha-1-antitrypsin deficiency (AATD) is a devastating disease with a lack of adequate therapies.
It can also be due to a genetic condition called alpha-1-antitrypsin deficiency.
Hereditary hemochromatosis, alpha-1-antitrypsin deficiency and Wilson's disease.
Aroori, "Delayed diagnosis of alpha-1-antitrypsin deficiency following post-hepatectomy liver failure: a case report," World Journal of Gastroenterology, vol.
Laboratory evaluation for metabolic causes of jaundice, including alpha-1-antitrypsin deficiency, cystic fibrosis, viral hepatitis, and glycogen storage disease, was performed, and while awaiting these results, an evaluation for BA and other surgical causes of conjugated hyperbilirubinemia was concurrently initiated.
Alpha-1-antitrypsin deficiency. Lancet 2005;365: 2225-36.
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.
Augmentation therapy for emphysema due to alpha-1-antitrypsin deficiency. Ther Adv Respir Dis 2008;2(1):13-21.
Clinical features and history of the destructive lung disease associated with alpha-1-antitrypsin deficiency of adults with pulmonary symptoms.
Three to 5 percent of emphysema patients have a genetic defect resulting in severe alpha-1-antitrypsin deficiency. These people tend to develop symptoms in their 20s and 30s rather than in middle or old age as most other emphysema patients do.
Bals, "Alpha-1-antitrypsin deficiency," Best Practice & Research Clinical Gastroenterology, vol.

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