吉尔伯特综合征患者1例报告及文献复习

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引用次数: 0

摘要

吉尔伯特综合征的一种遗传性疾病,其特征是ugt1a1基因存在基因突变,该基因负责尿苷二磷酸葡萄糖醛酸转移酶,负责胆汁的结合,从而使其易于从肝脏释放并在体内不积累。一位中年男子患有黄疸,尽管所有临床、实验室和影像学检查均正常。由于血液图像未显示外源细胞、网织红细胞计数和正常血红蛋白浓度,排除溶血,因此排除了高胆红素的主要原因是溶血的发生。所以他被诊断出患有吉尔伯特综合症。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Patient with Gilbert Syndrome A Case Report and Review of the Literature
One of the Gilbert syndrome genetic diseases that is characterized by the presence of a genetic mutation in UGT1A1 gene, which is responsible for uridine diphosphate glucuronosyl transferase enzyme, responsible for the binding of bile, and thus the ease of its release from the liver and its non-accumulation in the body. A middle-aged man suffers from jaundice, although all clinical, laboratory, and imaging tests are normal. Hemolysis was excluded by the fact that the blood image did not include the presence of foreign cells, as well as reticulocyte count, and hemoglobin concentration in their normal rates, so it was excluded that the main cause of high bilirubin was the occurrence of hemolysis. So he was diagnosed with Gilbert's syndrome.
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