吉尔波特症候群
吉尔波特症候群(英语:Gilbert's syndrome,简称GS)为一种常见的遗传性肝脏疾病,盛行率约3-12%[1][2][3][4][5]。
吉尔波特症候群 | |
---|---|
又称 | Gilbert–Meulengracht syndrome |
胆红素 | |
读音 | |
类型 | bilirubin metabolic disorder[*]、疾病 |
分类和外部资源 | |
医学专科 | 肝脏病学、家庭医学 |
ICD-11 | 5C58.01 |
ICD-10 | E80.4 |
ICD-9-CM | 277.4 |
OMIM | 143500 |
DiseasesDB | 5218 |
MedlinePlus | 000301 |
eMedicine | med/870 |
MeSH | D005878 |
Orphanet | 357 |
患者体内的非共轭性胆红素会显著提升,但没有明显并发症,患者可能会在运动后产生轻微黄疸。
知名病例
- 拿破仑一世[8]
- 阿瑟·科恩伯格,1959年诺贝尔生理医学奖得主[9]。
- Nicky Wire,狂躁街道传教者[10]。
- 亚历山大·多尔戈波洛夫,乌克兰职业网球选手[11]。
参考文献
- ^ 1.0 1.1 Gilbert's syndrome. Mayo Clinic. July 2, 2015 [2017-05-26]. (原始内容存档于2017-11-08).
- ^ Dugdale, David C. Gilbert's disease. MedlinePlus. U.S. National Library of Medicine. 2013-05-13 [10 February 2014]. (原始内容存档于2016-07-05).
- ^ Gilbert Syndrome. American Liver Foundation. [2017-05-26]. (原始内容存档于2017-11-15).
- ^ Gilbert's syndrome. NHS Choices. [2017-05-26]. (原始内容存档于2017-10-03).
- ^ What is Gilbert syndrome?. Genetics Home Reference. February 2012 [2017-05-26]. (原始内容存档于2019-04-08).
- ^ 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.
- ^ 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.
- ^ 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.
- ^ Shmaefsky, Brian. 5. Biotechnology 101. Greenwood Publishing Group. 2006: 175 [2017-05-26]. ISBN 978-0-313-33528-0. (原始内容存档于2019-08-02).
- ^ Wire preaches delights of three cliffs. South Wales Evening Post. 2007-04-27: 3.
- ^ David Cox. A Tennis Player Learns to Be Aggressive for Health’s Sake. New York Times (Monte Carlo). 19 April 2014 [2017-05-26]. (原始内容存档于2016-10-14).
外部链接
- Datagenno - Gilbert's syndrome(页面存档备份,存于互联网档案馆)
- GilbertsSyndrome.com — collection of information on Gilbert's Syndrome, including symptom survey
- Children's Liver Disease Foundation(页面存档备份,存于互联网档案馆)
- Gilbert's syndromeNIH订定的罕见病。
- Gilbert's Syndrome(页面存档备份,存于互联网档案馆) BMJ Best Practices monograph