Zhang M, Li W N, Chen G, Xu X, Qi J Y
Department and Institute of Infectious Disease, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.
Zhonghua Gan Zang Bing Za Zhi. 2021 Feb 20;29(2):143-149. doi: 10.3760/cma.j.cn501113-20190409-00114.
To investigate the diagnosis method of Gilbert syndrome (GS) and the relationship between UGT1A1 gene polymorphism distribution with serum bilirubin. Clinical data of 115 GS cases diagnosed in our hospital from January 2013 to November 2018 were retrospectively analyzed. Chi-square test, Fisher's exact probability method, t-test, and non-parametric test were used for data analysis. 115 cases with GS had an average age of (36.89 ± 12.77) years and an average serum total bilirubin level of (44.01 ± 18.78) μmol/L.UGT1A1*28/28 (21, 18.3%), UGT1A11/28 (17, 14.8%), and UGT1A11/6 (17, 14.8%) were the most common single-site mutations. UGT1A11/*28 + *1/6 (26, 22.6%), UGT1A128/*28 + *1/27 (5, 4.3%) and UGT1A11/*28 + *1/6 + 1/ 27 (5, 4.3%) were the most common multiple-site mutations. Among 110 cases with Gilbert syndrome combined with non-hemolytic diseases, pairwise comparisons showed that the total bilirubin levels of patients with UGT1A128/28 mutations were significantly higher than UGT1A16/6 and UGT1A11/*28 + *1/*6 mutation ( < 0.05). Additionally, with the increase of UGT1A1*28 distribution, the serum total bilirubin level had gradually increased ( = 0.028), but UGT1A1*6 was opposite ( = 0.021). There were no significant differences in gene distribution and bilirubin level between GS group (67 cases) and GS combined with viral hepatitis group (32 cases) ( > 0.05). UGT1A1 gene sequencing detection is a simple, safe, specific and sensitive effective method to assist GS diagnosis. It can reduce the misdiagnosis and mistreatment of clinical jaundice, thus reducing the patients' psychological burden and saving the limited medical resources. It is worthy of clinical application.
探讨吉尔伯特综合征（GS）的诊断方法以及尿苷二磷酸葡萄糖醛酸转移酶1A1（UGT1A1）基因多态性分布与血清胆红素之间的关系。回顾性分析2013年1月至2018年11月在我院确诊的115例GS患者的临床资料。采用卡方检验、Fisher确切概率法、t检验和非参数检验进行数据分析。115例GS患者的平均年龄为（36.89±12.77）岁，血清总胆红素平均水平为（44.01±18.78）μmol/L。UGT1A1*28/28（21例，18.3%）、UGT1A11/28（17例，14.8%）和UGT1A11/6（17例，14.8%）是最常见的单基因位点突变。UGT1A11/*28+*1/6（26例，22.6%）、UGT1A128/*28+*1/27（5例，4.3%）和UGT1A11/*28+*1/*6+*1/27（5例，4.3%）是最常见的多基因位点突变。在110例合并非溶血性疾病的吉尔伯特综合征患者中，两两比较显示，UGT1A128/28突变患者的总胆红素水平显著高于UGT1A16/6和UGT1A11/*28+*1/*6突变患者（P<0.05）。此外，随着UGT1A1*28分布比例的增加，血清总胆红素水平逐渐升高（P=0.028），而UGT1A1*6则相反（P=0.021）。GS组（67例）和GS合并病毒性肝炎组（32例）之间的基因分布和胆红素水平无显著差异（P>0.05）。UGT1A1基因测序检测是辅助GS诊断的一种简单、安全、特异且敏感的有效方法。它可以减少临床黄疸的误诊和误治，从而减轻患者的心理负担，节省有限的医疗资源。值得临床应用。
