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Alpha-1 antitrypsin deficiency (sometimes just called “Alpha-1”) is an inherited genetic disorder that causes low levels of a protein (AAT) that protects your lungs.
12 Απρ 2022 · Alpha-1 antitrypsin deficiency (AATD) is described as an autosomal codominant genetic disorder characterized by a reduction in circulating levels of alpha-1 antitrypsin (AAT) protein. This condition causes a loss of systemic balance between protease and antiprotease, and the lack of a fundamental anti-inflammatory acute-phase factor. 1
15 Σεπ 2017 · Alpha-1-antitrypsin deficiency (AATD) is a rare inherited condition caused by mutations of the SERPINA1 gene that is associated with the development of a COPD like lung disease. The comorbidities in patients with AATD-related lung diseases are not well defined.
Individuals with α 1 -antitrypsin deficiency have increased elastase activity resulting in continuous degradation of elastin and early onset of COPD. Increased elastase activity may also affect elastic properties of the heart, which may impact risk of heart failure.
21 Μαρ 2024 · Alpha 1 Antitrypsin Deficiency (AATD) is a rare, inherited lung disease which shares features with Chronic Obstructive Pulmonary Disease (COPD) but has a greater burden of proteinase related tissue damage. These proteinases are associated with cardiovascular disease (CVD) in the general population.
In combination with smoking or other long-term noxious exposures such as occupational dust and fumes, genetic A1AT deficiency can cause chronic obstructive pulmonary disease, a condition with elevated cardiovascular risk.
18 Ιαν 2024 · Chronic obstructive pulmonary disease (COPD) is an inflammatory multisystemic disease caused by environmental exposures and/or genetic factors. Inherited alpha-1-antitrypsin deficiency (AATD) is one of the best recognized genetic factors increasing the risk for an early onset COPD with emphysema.
