"Gilbert's-like" syndrome as part of a spectrum of persistent unconjugated hyperbilirubinemia in post-chronic hepatitis patients.
"Gilbert's-like" syndrome as part of a spectrum of persistent unconjugated hyperbilirubinemia in post-chronic hepatitis patients.
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DOI：
10.1038/s41598-018-19847-4
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发表时间：
2018-01-31
影响因子：
4.6
通讯作者：
Lin R
中科院分区：
文献类型：
--
作者：
Ye J;Cui L;Zhou Y;Huang Y;Banafa O;Hou X;Ding Z;Lin R
吉尔伯特综合征（GS）患者存在缓解的非共轭高胆红素血症。在这项研究中，我们研究了编码udp -葡萄糖醛酸糖基转移酶的基因UGT1A1多态性与临床GS和肝炎后高胆红素血症的非结合性高胆红素血症的发展之间的相关性。285例患者采集血样，其中临床诊断为GS患者85例，慢性肝病恢复期间接高胆红素血症患者70例，肝功能正常患者109例，慢性活动性肝炎患者21例。所有样本均采用焦磷酸测序法检测*28/*6 UGT1A1基因型。与GS对照组相比，GS患者UGT1A1*28/*6等位基因的变异有显著差异。肝炎后组UGT1A1*28/*6等位基因频率分布与肝炎对照组比较差异有统计学意义。在UGT1A1*28/*6等位基因频率和UGT1A1二倍型分布上，GS组与肝炎后组无显著差异。慢性肝病恢复期间接性高胆红素血症患者的UGT1A1*28/*6基因多态性与GS患者相似。这些发现提示“吉尔伯特样”综合征可能是慢性肝炎后患者持续非结合性高胆红素血症的一部分。
Gilbert’s syndrome (GS) patients present with remittent unconjugated hyperbilirubinemia. In this study, we investigated the correlation between polymorphisms in the gene encoding UDP-glucuronosyltransferase, UGT1A1, and the development of unconjugated hyperbilirubinemia in clinical GS and post-hepatitis hyperbilirubinemia. Blood samples were collected from 285 patients, including 85 patients who were clinically diagnosed with GS, 70 patients who had indirect hyperbilirubinemia during the recovery period of chronic liver diseases, 109 patients with normal hepatic function and 21 chronic active hepatitis patients. All samples were tested for the presence of the *28/*6 UGT1A1 genotype by pyrosequencing. Compared with the GS-control group, a significant difference in variations of the UGT1A1*28/*6 allele gene was found in GS patients. The post-hepatitis group showed a significant difference in the UGT1A1*28/*6 allele gene frequency distribution relative to that in the hepatitis control group. There were no significant differences between the GS group and post-hepatitis group in the distribution of the UGT1A1*28/*6 allele gene frequency and UGT1A1 diplotypes. UGT1A1*28/*6 gene polymorphisms in patients who had indirect hyperbilirubinemia while recovering from chronic liver diseases presented similar patterns as those seen for GS patients. These findings suggest that a “Gilbert’s-like” syndrome might be part of the spectrum of persistent unconjugated hyperbilirubinemia in post-chronic hepatitis patients.
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