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Gilbert综合征的研究现状 被引量：11

Current situation in the research of Gilbert’s syndrome
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摘要 Gilbert综合征是一种最常见的先天性血清胆红素增高症。本文主要就该病的遗传学、病理、诊断及治疗进行讨论。 Gilbert＇s syndrome is the most common hereditary cause of increased serum bilirubin. Genetics, pathology, diagnosis and therapy of the disease are discussed in this paper.
作者 朱俊乐 施斌
机构地区 第二军医大学附属长征医院消化内科
出处 《临床肝胆病杂志》 CAS 2011年第1期110-112,共3页 Journal of Clinical Hepatology
关键词 吉尔伯特病 Gilbert disease syndrome
分类号 R575 [医药卫生—消化系统]
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参考文献1

二级参考文献37

  • 1[1]Powell LW, Hemingway E, Billing BH, Sherlock S. Idiopathic unconjugated hyperbilirubinemia (Gilbert's syndrome). A study of 42 families. N Engl JMed 1967; 277:1108-1112
  • 2[2]Bosma PJ. Inherited disorders of bilirubin metabolism. J Hepatol 2003; 38:107-117
  • 3[3]Sampietro M, Lupica L, Perrero L, Comino A, Martinez di Montemuros F, Cappellini MD, Fiorelli G. The expression of uridine diphosphate glucuronosyltransferase gene is a major determinant of bilirubin level in heterozygous beta-thalassaemia and in glucose-6-phosphate dehydrogenase deficiency. Br J Haematol 1997; 99:437-439
  • 4[4]Doyama H, Okada T, Kobayashi T, Suzuki A, Takeda Y,Mabuchi H. Effect of bilirubin UDP glucuronosyltransferase 1gene TATA box genotypes on serum bilirubin concentrations in chronic liver injuries. Hepatology 2000; 32:563-568
  • 5[5]Jansen PL, Bosma PJ, Bakker C, Lems SP, Slooff MJ, Haagsma EB. Persistent unconjugated hyperbilirubinemia after liver transplantation due to an abnormal bilirubin UDP-glucuronosyltransferase gene promoter sequence in the donor.J Hepatol 1997; 27:1-5
  • 6[6]Bosma PJ, Chowdhury JR, Bakker C, Gantla S, de Boer A,Oostra BA, Lindhout D, Tytgat GN, Jansen PL, Oude Elferink RP. The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. N EnglJ Med 1995; 333:1171-1175
  • 7[7]Koiwai O, Nishizawa M, Hasada K, Aono S, Adachi Y,Mamiya N, Sato H. Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase. Hum Mol Genet 1995; 4:1183-1186
  • 8[8]Burchell B, Hume R. Molecular genetic basis of Gilbert's syndrome. J Gastroenterol Hepatol 1999; 14:960-966
  • 9[9]Clarke DJ, Moghrabi N, Monaghan G, Cassidy A, Boxer M, Hume R, Burchell B . Genetic defects of the UDP-glucuronosyltransferase-1 (UGT1) gene that cause familial non-haemolytic unconjugated hyperbilirubinaemias. Clin Chim Acta 1997; 266:63-74
  • 10[10]de Morais SM, Uetrecht JP, Wells PG. Decreased glucuronidation and increased bioactivation of acetaminophen in Gilbert's syndrome. Gastroenterology 1992; 102:577-586

共引文献28

同被引文献145

引证文献11

二级引证文献22

临床肝胆病杂志
2011年 第1期

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