Alpha1-Antitrypsin Deficiency: A Cause of Chronic Liver Disease.
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摘要
Alpha1-antitrypsin deficiency (A1ATD) is an inherited cause of chronic liver disease. It is inherited in an autosomal codominant pattern with each inherited allele expressed in the formation of the final protein, which is primarily produced in hepatocytes. The disease usually occurs in pediatric and elderly populations. The disease occurs with the accumulation of abnormal protein polymers within hepatocytes that can induce liver injury and fibrosis. It is a commonly under-recognized and underdiagnosed condition. Patients diagnosed with the disease should be regularly monitored for the development of liver disease. Liver transplant is of proven benefit in A1ATD liver disease.
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基因功能
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原始数据
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文献解读
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