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Alpha-1 antitrypsin or α 1-antitrypsin (A1AT, α 1 AT, A1A, or AAT) is a protein belonging to the serpin superfamily. It is encoded in humans by the SERPINA1 gene.A protease inhibitor, it is also known as alpha 1 –proteinase inhibitor (A1PI) or alpha 1-antiproteinase (A1AP) because it inhibits various proteases (not just trypsin). [5]
About Alpha-1 Antitrypsin (AAT) and AAT Deficiency Alpha-1 antitrypsin deficiency is an autosomal disorder that results in disease of the lungs and liver, and afflicts roughly 10,000 patients ...
Fecal alpha 1-antitrypsin may be quantified in a random stool sample, or more accurately, in a 24-hour stool sampling to quantify the amount of protein loss in PLE. [8] In suspected cases of local disease, or when PLE is suspected to be due to lymph drainage abnormalities, lymphangiography may be used to localize the areas of lymphatic leakage. [8]
Alpha-1 antitrypsin deficiency (A1AD or AATD) is a genetic disorder that may result in lung disease or liver disease. [1] Onset of lung problems is typically between 20 and 50 years of age. [ 1 ] This may result in shortness of breath , wheezing , or an increased risk of lung infections .
The majority of serpin-related diseases are the result of serpin polymerisation into aggregates, though several other types of disease-linked mutations also occur. [8] [76] The disorder alpha-1 antitrypsin deficiency is one of the most common hereditary diseases. [11] [77]
The alpha-1 fraction does not disappear in alpha 1-antitrypsin deficiency, however, because other proteins, including alpha-lipoprotein and orosomucoid, also migrate there. As a positive acute phase reactant, AAT is increased in acute inflammation. [citation needed] Bence Jones protein may bind to and retard the alpha-1 band. [citation needed]
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