Gilbert综合征诊断进展*

doi:10.3969/j.issn.1672-5069.2026.03.003

Abstract

Li Meihan, Yu Haitian, Zheng Sujun. Gilbert's syndrome: current landscape and future perspective[J]. Journal of Practical Hepatology, 2026, 29(3): 328-331.

[1] Fretzayas A, Moustaki M, Liapi O, et al. Gilbert syndrome. Eur J Pediatr. 2012,171(1):11-15.
[2] 中华医学会肝病学分会遗传代谢性肝病协作组.遗传性高胆红素血症诊疗专家共识(2025年版).中华肝脏病杂志,2025, 33(8): 747-759.
[3] Wagner KH, Shiels RG, Lang CA, et al. Diagnostic criteria and contributors to Gilbert's syndrome. Crit Rev Clin Lab Sci, 2018,55(2):129-139.
[4] Stanbridge AJ, Cranshaw T, Paul MM. Clozapine metabolism may be affected by Gilbert's syndrome: case report and discussion. Pharmacogenet Genomics, 2021,31(9):221-224.
[5] Radu P, Atsmon J. Gilbert's syndrome--clinical and pharmacological implications. Isr Med Assoc J, 2001,3(8):593-598.
[6] Zhang D, Chando TJ, Everett DW, et al. In vitro inhibition of UDP glucuronosyltransferases by atazanavir and other HIV protease inhibitors and the relationship of this property to in vivo bilirubin glucuronidation. Drug MetabDispos, 2005,33(11):1729-1739.
[7] Vítek L, Tiribelli C. Gilbert's syndrome revisited. J Hepatol, 2023,79(4):1049-1055.
[8] Bosma PJ, Chowdhury JR, Bakker C, et al. The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. N Engl J Med, 1995,333(18):1171-1175.
[9] Claridge LC, Armstrong MJ, Booth C, et al. Gilbert's syndrome. BMJ, 2011,342:d2293.
[10] Hsieh TY, Shiu TY, Chu NF, et al. Rapid molecular diagnosis of the Gilbert's syndrome-associated exon 1 mutation within the UGT1A1 gene. Genet Mol Res, 2014,13(1):670-679.
[11] Wagner KH, Shiels RG, Lang CA, et al. Diagnostic criteria and contributors to Gilbert's syndrome. Crit Rev Clin Lab Sci, 2018,55(2):129-139.
[12] 张梦, 李维娜, 陈广, 等. UGT1A1基因检测在Gilbert综合征中的诊断价值分析. 中华肝脏病杂志, 2021, 29(2): 143-149.
[13] King D, Armstrong MJ. Overview of Gilbert's syndrome. Drug Ther Bull, 2019,57(2):27-31.
[14] Poynard T, Deckmyn O, Peta V, et al. Clinical and genetic definition of serum bilirubin levels for the diagnosis of Gilbert syndrome and hypobilirubinemia. Hepatol Commun, 2023,7(10):e0245.
[15] Thomsen HF, Hardt F, Juhl E. Diagnosis of Gilbert's syndrome. Reliability of the caloric restriction and phenobarbital stimulation tests. Scand J Gastroenterol, 1981,16(5):699-703.
[16] Dickey W, McAleer JJ, Callender ME. The nicotinic acid provocation test and unconjugated hyperbilirubinaemia. Ulster Med J, 1991,60(1):49-52.
[17] 张梦. UGT1A1基因检测在Gilbert综合征中的诊断价值分析--附115例Gilbert综合征病例分析.湖北:华中科技大学,2019.
[18] 桑伟,柯比努尔·吐尔逊,马倩,等.Gilbert综合征临床病理诊断及特征分析.新疆医学,2024,54(3):259-262.
[19] Grant LM, Faust TW, Thoguluva Chandrasekar V, et al. Gilbert syndrome. In: StatPearls. Treasure Island (FL): StatPearls Publishing; October 5, 2024.
[20] 冯家立,章莉莎.259例Gilbert综合征UGT1A1基因检测分析.中西医结合肝病杂志,2022,32(12):1127-1129.
[21] 梁晨,罗磊,白洁,等. Gilbert综合征和Crigler-Najjar综合征相关尿苷二磷酸葡糖醛酸转移酶A1基因突变位点特征分析.中华肝脏病杂志,2020,28(5):428-433.
[22] Sun L, Li M, Zhang L, et al. Differences in UGT1A1 gene mutations and pathological liver changes between Chinese patients with Gilbert syndrome and Crigler-Najjar syndrome type II. Medicine (Baltimore),2017,96(45):e8620.
[23] 邓玉婷,魏民华,周俊英.Gilbert综合征研究进展.实用肝脏病杂志,2021,24(2):156-159.
[24] Gu L, Han Y, Zhang D, et al. Genetic testing of UGT1A1 in the diagnosis of Gilbert syndrome: The discovery of seven novel variants in the Chinese population. Mol Genet Genomic Med, 2022,10(7):e1958.
[25] 宁会彬, 李宽, 毛重山, 等. 慢性乙型肝炎合并Gilbert综合征患者33例临床及其基因突变分析.中华肝脏病杂志, 2015, 23(1): 13-16.
[26] 张杰, 郑素军. 溶血性黄疸的临床特征及鉴别诊断. 临床肝胆病杂志, 2020, 36(6): 1423-1427.
[27] He BJ, Liao L, Deng ZF, et al. Molecular genetic mechanisms of hereditary spherocytosis: Current perspectives. Acta Haematol, 2018,139(1):60-66.
[28] Wu Y, Liao L, Lin F. The diagnostic protocol for hereditary spherocytosis-2021 update. J Clin Lab Anal, 2021,35(12):e24034.
[29] Zamora EA, Schaefer CA. Hereditary spherocytosis. In: StatPearls. Treasure Island (FL): StatPearls Publishing; July 4, 2023.
[30] Haley K. Congenital hemolytic anemia. Med Clin North Am, 2017,101(2):361-374.
[31] Nannelli C, Bosman A, Cunningham J, et al. Genetic variants causing G6PD deficiency: Clinical and biochemical data support new WHO classification. Br J Haematol,2023,202(5):1024-1032.
[32] Kaplan M. Genetic interactions in the pathogenesis of neonatal hyperbilirubinemia: Gilbert's syndrome and glucose-6-phosphate dehydrogenase deficiency. J Perinatol, 2001,21 (Suppl 1):S30-S39.
[33] Luzzatto L, Nannelli C, Notaro R. Glucose-6-phosphate dehydrogenase deficiency. Hematol Oncol Clin North Am, 2016,30(2):373-393.
[34] Harcke SJ, Rizzolo D, Harcke HT. G6PD deficiency: An update. JAAPA, 2019,32(11):21-26.
[35] 《地中海贫血携带者筛查及防控专家共识》制订组,肖波. 地中海贫血携带者筛查及防控专家共识. 国际神经病学神经外科学杂志,2024,51(5):43-50.
[36] Viprakasit V, Ekwattanakit S. Clinical classification, screening and diagnosis for thalassemia. Hematol Oncol Clin North Am, 2018,32(2):193-211.
[37] 何俊,赵美英.红细胞参数、红细胞脆性试验及G6PD活性检测在地中海贫血诊断中的应用. 中国医药导刊,2010,12(6):1031-1032.
[38] Ali S, Mumtaz S, Shakir HA, et al. Current status of beta-thalassemia and its treatment strategies. Mol Genet Genomic Med. 2021,9(12):e1788.
[39] 江峰锦,白乐,余泽波,等.自身免疫性溶血性贫血的诊疗进展.临床输血与检验,2023,25(5):692-698.
[40] Powell LW, Hemingway E, Billing BH, et al. Idiopathic unconjugated hyperbilirubinemia (Gilbert's syndrome). A study of 42 families. N Engl J Med, 1967,277(21):1108-1112.
[41] Aono S, Adachi Y, Uyama E, et al. Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome. Lancet, 1995,345(8955):958-959.
[42] Bosma P, Chowdhury JR, Jansen PH. Genetic inheritance of Gilbert's syndrome. Lancet, 1995,346(8970):314-315.
[43] Admin.Your genes and why you have gilbert’s syndrome[EB/OL]. (2023-14)[2025-01-21]. https://gilbertssyndrome.org.uk/genes-gilberts-syndrome/.
[44] Maruo Y, Nakahara S, Yanagi T, et al. Genotype of UGT1A1 and phenotype correlation between Crigler-Najjar syndrome type II and Gilbert syndrome. J Gastroenterol Hepatol, 2016,31(2):403-408.
[45] Schonfeld EA, Brown RS Jr. Genetic causes of liver disease: When to suspect a genetic etiology, initial lab testing, and the basics of management. Med Clin North Am, 2019,103(6):991-1003.
[46] Bal C, Chawla M. Hyperthyroidism and jaundice. Indian J Nucl Med, 2010,25(4):131-134.
[47] Piantanida E, Ippolito S, Gallo D, et al. The interplay between thyroid and liver: implications for clinical practice. J Endocrinol Invest, 2020,43(7):885-899.
[48] 郑敏,潘莉珍,谢莉,等.先天性甲状腺功能减低症伴病理性黄疸61例分析.中国优生与遗传杂志,2013,21(5):134-135.
[49] 黄国英,孙锟,罗小平,等.儿科学.10版.北京:人民卫生出版社,2023.
[50] Gou Y, Wang P, Yang W, et al. A Case of adult hereditary spherocytosis concomitant with Gilbert syndrome Caused by mutations in SPTB and UGT1A1. J Inflamm Res,2024,17:5977-5983.

Gilbert's syndrome: current landscape and future perspective

PDF (PC)

Knowledge

Abstract

Cite this article

share this article

References

Related Articles 15

Recommended Articles

Metrics

Comments

[1]	Liu Jianxiao, Wang Yan, Chen Shicheng, et al. CT-measured extracellular volume fraction in combination with serum NOX2 and YKL-40 levels in predicting hepatic fibrosis in patients with chronic hepatitis B [J]. Journal of Practical Hepatology, 2026, 29(3): 337-340.
[2]	Zhao Yingdi, Chen Yuting, Zong Fuqiang. Application of Fibroscan in evaluating hepatic steatosis in patients with non alcoholic fatty liver diseases [J]. Journal of Practical Hepatology, 2026, 29(3): 345-348.
[3]	Zeng Hao, Li Bing, Lei Ting, et al. Diagnostic efficacy of FibroScan and liver-spleen CT ratio combination in predicting hepatic steatosis in patients with nonalcoholic fatty liver disease [J]. Journal of Practical Hepatology, 2026, 29(3): 357-360.
[4]	Yang Xi, Yang Bingbing, Wang Xu, et al. Diagnostic performance of first-phase ejection fraction in combination with LVEF and GLS in predicting cirrhotic cardiomyopathy [J]. Journal of Practical Hepatology, 2026, 29(3): 373-376.
[5]	Wei Xin, Yan Yiman, Su Kejie, et al. CT portal venography in evaluating splenorenal shunt in patients with liver cirrhosis [J]. Journal of Practical Hepatology, 2026, 29(3): 385-388.
[6]	Xu Xiaohu, Wang Wei, Ma Qiulian, et al. Application of MRI feature in combination with serum AFP and PIVKA-II levels in early diagnosis of patients with hepatocellular carcinoma [J]. Journal of Practical Hepatology, 2026, 29(3): 405-408.
[7]	Qian Mengjiao, Sun Yanjun, Zhong Yao. Diagnostic performance of CT and MRI scan in combination with serum AFP and PIVKA-II levels in patients with hepatitis B-induced liver cirrhosis with space-occupying lesions [J]. Journal of Practical Hepatology, 2026, 29(3): 417-420.
[8]	Tan Chunmei, Wang Qingqing, Liu Jie, et al. Contrast-enhanced ultrasound in combination with serum AFP, PIVKA-II and SP70 levels in the diagnosis of patients with intrahepatic space-occupying lesions [J]. Journal of Practical Hepatology, 2026, 29(3): 438-441.
[9]	Hao Cheng, Peng Yong, Du Xia. Pre- and post-operative evaluation of hepatic blood supply by CT angiography in patients undergoing liver transplantation [J]. Journal of Practical Hepatology, 2026, 29(3): 442-445.
[10]	Cheng Qi, Geng Chengjun, Jin Xiaofeng, et al. Differentiation diagnosis of atypical hepatic abscess and intrahepatic metastasis by MR with diffusion-weighted imaging [J]. Journal of Practical Hepatology, 2026, 29(3): 446-449.
[11]	Liu Jingfang, Hu Xiaojuan, Yang Weijian. MR imaging feature of focal nodular hyperplasia of liver: Analysis of 35 cases [J]. Journal of Practical Hepatology, 2026, 29(3): 454-457.
[12]	Zhang Jingyu, Wang Yifei, Ma Luping. Serum sTREM-1, CRP and direct bilirubin levels help make diagnosis of acute severe cholangitis in patients with common bile duct stones [J]. Journal of Practical Hepatology, 2026, 29(3): 463-466.
[13]	Lan Guobin, Liu Chuang, Wang Hao, et al. Diagnostic performance of revolution CT multi-parameter spectral imaging and iterative reconstruction for microperforation in patients with cholecystitis [J]. Journal of Practical Hepatology, 2026, 29(3): 467-470.
[14]	Zhu Lin, Bi Juan, Yan Qi. Combination of H-CEUS and MFI in the differential diagnosis of benign and malignant polypoid lesions of gallbladder: A single center study [J]. Journal of Practical Hepatology, 2026, 29(3): 475-478.
[15]	Chang Jingxia, Zhang Li, Gai Lin, et al. Diagnostic efficacy of transient elastography with combination of FIB-4 and APRI in assessing significant liver fibrosis in patients with chronic hepatitis B [J]. Journal of Practical Hepatology, 2026, 29(2): 183-186.