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[吉尔伯特综合征:高胆红素血症是敌还是友]

[Gilbert's syndrome: hyperbilirubinemia enemy or friend].

作者信息

Xiang G Q, Sun F R, Wang B Y

机构信息

Department of Endoscopy, Liaoning Cancer Hospital &.Institute, Shenyang 110042, China.

Department of Elderly Gastroenterology, The First Affiliated Hospital of China Medical University, Shenyang 110001, China.

出版信息

Zhonghua Gan Zang Bing Za Zhi. 2021 Oct 20;29(10):1024-1027. doi: 10.3760/cma.j.cn501113-20200212-00041.

Abstract

Gilbert's syndrome is a kind of benign inherited disease of bilirubin binding disorder, mainly due to the homozygous polymorphism A(TA)7TAA in the promoter of the gene for uridine diphosphate -glucuronosyltransferase 1A1 (UGT1A1), which is a TA insertion into the promoter, designated as UGT1A1*28, with UGT activity reduction to 30% of the normal value. Therefore, circulating fat-soluble unconjugated bilirubin cannot be converted into water-soluble conjugated bilirubin, leading to unconjugated hyperbilirubinemia. Bilirubin has a strong affinity for erythrocyte phospholipids, which interferes with membrane composition and dynamics, resulting in increased erythrocytes fragility, easy rupture, and gradual shortening of survival time. However, there are no obvious sign of hemolysis or abnormal iron metabolism, erythrocytes and bone marrow morphology. A small amount of chronic hemolysis stimulates extramedullary (normal bone marrow morphology) hematopoiesis, ensuing compensatory increase in circulating erythrocytes and hemoglobin. Hyperbilirubinemia may also weaken gastrointestinal motility, increase passive diffusion and absorption across the intestinal mucosal epithelium by 1.5 to 2 times, thereby aggravating or worsening hyperbilirubinemia mainly with unconjugated bilirubin circulation, which indicates that there is a causal relationship between the circulating bilirubin concentration and rapid erythrocytes turnover and hemolysis rate in patients with Gilbert's syndrome. Interestingly, bilirubin also has significant antioxidant and anti-mutagenic activities, and the potential health benefits of mild hyperbilirubinemia in Gilbert's syndrome include reduced prevalence of cardiovascular disease, type 2 diabetes mellitus (and related risk factors), certain cancers, and cardiovascular-related and all-cause mortality. Exogenous bilirubin and biliverdin supplements in intestinal epithelial cells can be absorbed and may increase circulating concentration of these antioxidant compounds. With this information, we hope to raise awareness of the potentially harmful and beneficial effects of benign hyperbilirubinemia, and explore and develop beneficial medical interventions.

摘要

吉尔伯特综合征是一种胆红素结合障碍的良性遗传性疾病,主要是由于尿苷二磷酸葡萄糖醛酸基转移酶1A1(UGT1A1)基因启动子中的纯合多态性A(TA)7TAA,这是一个插入启动子的TA序列,命名为UGT1A1*28,其UGT活性降至正常值的30%。因此,循环中的脂溶性未结合胆红素不能转化为水溶性结合胆红素,导致未结合型高胆红素血症。胆红素对红细胞磷脂具有很强的亲和力,这会干扰膜的组成和动力学,导致红细胞脆性增加、容易破裂以及存活时间逐渐缩短。然而,没有明显的溶血迹象或铁代谢、红细胞及骨髓形态异常。少量的慢性溶血刺激髓外(正常骨髓形态)造血,继而导致循环红细胞和血红蛋白代偿性增加。高胆红素血症还可能减弱胃肠蠕动,使经肠黏膜上皮的被动扩散和吸收增加1.5至2倍,从而主要通过未结合胆红素循环加重或恶化高胆红素血症,这表明吉尔伯特综合征患者循环胆红素浓度与红细胞快速周转及溶血速率之间存在因果关系。有趣的是,胆红素还具有显著的抗氧化和抗诱变活性,吉尔伯特综合征中轻度高胆红素血症潜在的健康益处包括心血管疾病、2型糖尿病(及相关危险因素)、某些癌症的患病率降低,以及心血管相关和全因死亡率降低。肠道上皮细胞中外源性胆红素和胆绿素补充剂可被吸收,并可能增加这些抗氧化化合物的循环浓度。基于这些信息,我们希望提高对良性高胆红素血症潜在有害和有益影响的认识,并探索和开发有益的医学干预措施。

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