Autosomal Recessive alpha-1-Antitrypsin Deficiency

A heriditary autosomal recessive disorder characterized by early-onset EMPHYSEMA, which becomes evident during young adulthood; TOBACCO SMOKING greatly increases the risk for emphysema at an earlier age. LIVER CIRRHOSIS and LIVER FAILURE may also occur in younger patients, but are less common. Mutations in the SERPINA1 gene have been identified. OMIM: 613490

Also Known As:

alpha-1-Antitrypsin Deficiency, Autosomal Recessive; Alpha-1 Protease Inhibitor Deficiency; Alpha-1 Related Emphysema; Genetic Emphysema; Hereditary Pulmonary Emphysema; Inherited Emphysema

Networked: 5 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Inborn Genetic Diseases (Disease, Hereditary)
2.	Chronic Obstructive Pulmonary Disease (COPD)
3.	Emphysema

Experts

1.	Chhabra, Roohi: 1 article (03/2013)
2.	Greene, Catherine M: 1 article (03/2013)
3.	McElvaney, Noel G: 1 article (03/2013)
4.	Cavarra, E: 1 article (11/2003)
5.	Lucattelli, M: 1 article (11/2003)
6.	Lungarella, G: 1 article (11/2003)
7.	Martorana, P A: 1 article (11/2003)
8.	Tetley, T D: 1 article (11/2003)
9.	de Santi, M M: 1 article (11/2003)
10.	Gottlieb, D J: 1 article (08/2000)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Autosomal Recessive alpha-1-Antitrypsin Deficiency:

1.	Leukocyte Elastase (Neutrophil Elastase)IBA 06/01/1991 - "Evidence that genetic emphysema in tight-skin mice is not caused by neutrophil elastase."
2.	SeleniumIBA 03/11/2013 - "Together these ER stress-relieving and anti-inflammatory properties suggest a therapeutic potential for selenium supplementation in genetic emphysema." 03/11/2013 - "Alpha-1 antitrypsin (AAT) deficiency, also known as genetic emphysema, is a conformational disorder in which the roles of ER stress, SEPS1 and selenium have been investigated. "
3.	Pancreatic Elastase (Elastase)IBA 08/01/2000 - "In alpha-1 protease inhibitor deficiency, the only genetic disorder known to cause COPD, lack of inhibition of elastase activity, results in the parenchymal destruction of emphysema. "
4.	CollagenIBA 04/01/1992 - "Lung collagen synthesis and deposition in tight-skin mice with genetic emphysema."
5.	Crystalloid SolutionsIBA 11/01/2003 - "The current authors previously described crystalloid inclusions in alveolar macrophages of mice with genetic emphysema at the time of septal disruption. "