吉爾波特症候群

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吉爾波特症候群
同义词 Gilbert–Meulengracht syndrome
Bilirubin.svg
胆红素
读音
分类和外部资源
醫學專科 內分泌學
ICD-10 E80.4
ICD-9-CM 277.4
OMIM 143500
DiseasesDB 5218
MedlinePlus 000301
eMedicine med/870
Patient UK 吉爾波特症候群
MeSH D005878

吉爾波特症候群Gilbert's syndrome,簡稱GS)為一種常見的遺傳性肝臟疾病,盛行率約3-12%[1][2][3][4][5]

患者體内的非共軛性膽紅素會顯著提升,但沒有明顯併發症,患者可能會在運動後產生輕微黃疸。

造成此疾病的原因為患者的葡萄糖醛酸苷轉移酶英语glucuronyltransferase功能不佳[6][7],使非共軛膽紅素無法轉化為較為水溶的共軛膽紅素。

知名病例[编辑]

參考文獻[编辑]

  1. ^ 1.0 1.1 Gilbert's syndrome. Mayo Clinic. July 2, 2015. 
  2. ^ Dugdale, David C. Gilbert's disease. MedlinePlus. U.S. National Library of Medicine. 2013-05-13 [10 February 2014]. 
  3. ^ Gilbert Syndrome. American Liver Foundation. 
  4. ^ Gilbert's syndrome. NHS Choices. 
  5. ^ What is Gilbert syndrome?. Genetics Home Reference. February 2012. 
  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.. The New England Journal of Medicine. 2 November 1995, 333 (18): 1171–5. PMID 7565971. doi:10.1056/nejm199511023331802. 
  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.. Human Molecular Genetics. July 1995, 4 (7): 1183–6. PMID 8528206. doi:10.1093/hmg/4.7.1183. 
  8. ^ Foulk, WT; Butt, HR; Owen, CA Jr; Whitcomb, FF Jr; Mason, HL. Constitutional hepatic dysfunction (Gilbert's disease): its natural history and related syndromes. Medicine (Baltimore). 1959, 38 (1): 25–46. PMID 13632313. 
  9. ^ Shmaefsky, Brian. 5. Biotechnology 101. Greenwood Publishing Group. 2006: 175. ISBN 978-0-313-33528-0. 
  10. ^ Wire preaches delights of three cliffs. South Wales Evening Post英语South Wales Evening Post. 2007-04-27: 3. 
  11. ^ David Cox. A Tennis Player Learns to Be Aggressive for Health’s Sake. New York Times (Monte Carlo). 19 April 2014. 

外部連結[编辑]