吉尔伯特综合征

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 Nov 2;333(18):1171-5.全文  摘要

King D, Armstrong MJ. Overview of Gilbert's syndrome. Drug Ther Bull. 2019 Feb;57(2):27-31. 摘要

Kwo PY, Cohen SM, Lim JK. ACG clinical guideline: evaluation of abnormal liver chemistries. Am J Gastroenterol. 2017 Jan;112(1):18-35.全文  摘要

1. Claridge LC, Armstrong MJ, Booth C, et al. Gilbert's syndrome. BMJ. 2011 Apr 19;342:d2293. 摘要

2. Kamal S, Abdelhakam S, Ghoraba D, et al. The frequency, clinical course, and health related quality of life in adults with Gilbert's syndrome: a longitudinal study. BMC Gastroenterol. 2019 Feb 4;19(1):22.全文  摘要

3. Kang LL, Liu ZL, Zhang HD. Gilbert's syndrome coexisting with hereditary spherocytosis might not be rare: Six case reports. World J Clin Cases. 2020 May 26;8(10):2001-8.全文  摘要

4. Shrestha O, Khadwal AR, Singhal M, et al. A high frequency of Gilbert syndrome (UGT1A1*28/*28) and associated hyperbilirubinemia but not cholelithiasis in adolescent and adult north Indian patients with transfusion-dependent β-thalassemia. Ann Hematol. 2020 Sep;99(9):2019-26. 摘要

5. Singer S, Pilpel N, Pinhas-Hamiel O. Gilbert syndrome in patients with type 1 diabetes: prevalence, glycemic control, and microalbuminuria. Pediatr Diabetes. 2017 Dec;18(8):803-7. 摘要

6. Sticova E, Jirsa M. New insights in bilirubin metabolism and their clinical implications. World J Gastroenterol. 2013 Oct 14;19(38):6398-407.全文  摘要

7. Owens D, Evans J. Population studies on Gilbert's syndrome. J Med Genet. 1975 Jun;12(2):152-6.全文  摘要

8. Watson KJ, Gollan JL. Gilbert's syndrome. Baillieres Clin Gastroenterol. 1989 Apr;3(2):337-55. 摘要

9. Saki F, Hemmati F, Haghighat M. Prevalence of Gilbert syndrome in parents of neonates with pathologic indirect hyperbilirubinemia. Ann Saudi Med. 2011 Mar-Apr;31(2):140-4.全文  摘要

10. Burchell B, Hume R. Molecular genetic basis of Gilbert's syndrome. J Gastroenterol Hepatol. 1999 Oct;14(10):960-6. 摘要

11. Takeuchi K, Kobayashi Y, Tamaki S, et al. Genetic polymorphisms of bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese patients with Crigler-Najjar syndrome or Gilbert's syndrome as well as in healthy Japanese subjects. J Gastroenterol Hepatol. 2004 Sep;19(9):1023-8. 摘要

12. 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 Nov 2;333(18):1171-5.全文  摘要

13. National Library of Medicine. UGT1A1 UDP glucuronosyltransferase family 1 member A1 [Homo sapiens (human)]. Aug 2022 [internet publication].全文

14. King D, Armstrong MJ. Overview of Gilbert's syndrome. Drug Ther Bull. 2019 Feb;57(2):27-31. 摘要

15. Monaghan G, Ryan M, Seddon R, et al. Genetic variation in bilirubin UDP-glucuronosyltransferase gene promoter and Gilbert's syndrome. Lancet. 1996 Mar 2;347(9001):578-81. 摘要

16. Muraca M, Fevery J. Influence of sex and sex steroids on bilirubin uridine diphosphate-glucuronosyltransferase activity of rat liver. Gastroenterology. 1984 Aug;87(2):308-13. 摘要

17. Strassburg CP. Gilbert-Meulengracht’s syndrome and pharmacogenetics: is jaundice just the tip of the iceberg? Drug Metab Rev. 2010 Feb;42(1):168-81. 摘要

18. Minucci A, Concolino P, Giardina B, et al. Rapid UGT1A1 (TA)(n) genotyping by high resolution melting curve analysis for Gilbert’s syndrome diagnosis. Clin Chim Acta. 2010 Feb;411(3-4):246-9. 摘要

19. Kwo PY, Cohen SM, Lim JK. ACG clinical guideline: evaluation of abnormal liver chemistries. Am J Gastroenterol. 2017 Jan;112(1):18-35.全文  摘要

20. Ehmer U, Lankisch TO, Erichsen TJ, et al. Rapid allelic discrimination by TaqMan PCR for the detection of the Gilbert's syndrome marker UGT1A1*28. J Mol Diagn. 2008 Nov;10(6):549-52.全文  摘要

21. Marques SC, Ikediobi ON. The clinical application of UGT1A1 pharmacogenetic testing: gene-environment interactions. Hum Genomics. 2010 Apr;4(4):238-49.全文  摘要

22. Gollan JL, Bateman C, Billing BH. Effect of dietary composition on the unconjugated hyperbilirubinemia of Gilbert's syndrome. Gut. 1976 May;17(5):335-40.全文  摘要

23. Bensinger TA, Maisels MJ, Carlson DE, et al. Effect of low caloric diet on endogenous carbon monoxide production: normal adults and Gilbert's syndrome. Proc Soc Exp Biol Med. 1973 Nov;144(2):417-9. 摘要

24. Gärtner U, Goeser T, Wolkoff AW. Effect of fasting on the uptake of bilirubin and sulfobromophthalein by the isolated perfused rat liver. Gastroenterology. 1997 Nov;113(5):1707-13. 摘要

25. Martin JF, Vierling JM, Wolkoff AW, et al. Abnormal hepatic transport of indocyanine green in Gilbert's syndrome. Gastroenterology. 1976 Mar;70(3):385-91. 摘要

26. Lee JS, Wang J, Martin M, et al. Genetic variation in UGT1A1 typical of Gilbert syndrome is associated with unconjugated hyperbilirubinemia in patients receiving tocilizumab. Pharmacogenet Genomics. 2011 Jul;21(7):365-74. 摘要

27. Peer CJ, Sissung TM, Kim A, et al. Sorafenib is an inhibitor of UGT1A1 but is metabolized by UGT1A9: implications of genetic variants on pharmacokinetics and hyperbilirubinemia. Clin Cancer Res. 2012 Apr 1;18(7):2099-107.全文  摘要

28. Horsfall LJ, Nazareth I, Pereira SP, et al. Gilbert's syndrome and the risk of death: a population-based cohort study. J Gastroenterol Hepatol. 2013 Oct;28(10):1643-7. 摘要

29. Horsfall LJ, Rait G, Walters K, et al. Serum bilirubin and risk of respiratory disease and death. JAMA. 2011 Feb 16;305(7):691-7.全文  摘要

30. Kwon YJ, Lee YJ, Park BJ, et al. Total serum bilirubin and 8-year incident type 2 diabetes mellitus: the Korean Genome and Epidemiology Study. Diabetes Metab. 2018 Sep;44(4):346-53. 摘要

31. Wagner KH, Wallner M, Mölzer C, et al. Looking to the horizon: the role of bilirubin in the development and prevention of age-related chronic diseases. Clin Sci (Lond). 2015 Jul;129(1):1-25. 摘要

32. Innocenti F, Iyer L, Ratain MJ. Pharmacogenetics: a tool for individualizing antineoplastic therapy. Clin Pharmacokinet. 2000 Nov;39(5):315-25. 摘要

33. de Morais SM, Uetrecht JP, Wells PG. Decreased glucuronidation and increased bioactivation of acetaminophen in Gilbert's syndrome. Gastroenterology. 1992 Feb;102(2):577-86.全文  摘要

34. Ullrich D, Sieg A, Blume R, et al. Normal pathways for glucuronidation, sulphation and oxidation of paracetamol in Gilbert's syndrome. Eur J Clin Invest. 1987 Jun;17(3):237-40. 摘要

35. Rauchschwalbe SK, Zühlsdorf MT, Wensing G, et al. Glucuronidation of acetaminophen is independent of UGT1A1 promotor genotype. Int J Clin Pharmacol Ther. 2004 Feb;42(2):73-7. 摘要

36. Deterding K, Grüngreiff K, Lankisch TO, et al. Gilbert's syndrome and antiviral therapy of hepatitis C. Ann Hepatol. 2009 Jul-Sep;8(3):246-50. 摘要

37. Jordovic J, Bojovic K, Simonovic-Babic J, et al. Significance of UGT1A1*28 genotype in patients with advanced liver injury caused by chronic hepatitis C. J Med Biochem. 2019 Mar 1;38(1):45-52.全文  摘要

38. Prueksaritanont T, Tang C, Qiu Y, et al. Effects of fibrates on metabolism of statins in human hepatocytes. Drug Metab Dispos. 2002 Nov;30(11):1280-7. 摘要

39. Jialal I, Siegel D. Statin intolerance in a patient with Gilberts syndrome and hypercholesterolemia. Exp Clin Endocrinol Diabetes Rep. 2016;3(01):e8-10.全文