法布里病
法布里病(英语:Fabry disease,Fabry's disease,或Anderson-Fabry disease),或法布雷病,一种X染色体上基因异常导致的X-连锁隐性遗传疾病。因体内负责制造α-galactosidase(a-GAL)酵素的基因缺陷,造成体内糖神经胺醇脂质(glycosphingolipid)无法代谢,不断堆积在细胞质及溶体中,而引发多处器官病变,严重时可能造成死亡。它的命名来自于它的发现者之一,约翰内斯·法布里(Johannes Fabry)。
症状 编辑
此病的临床症状多变。患者在儿童或青年期,手脚末端会产生间歇性的疼痛或感觉异常,有些患者形容如火烧般剧痛,在高温、季节变化、及运动后容易产生。经常被误诊为风湿病,关节炎,关节痛,生长痛或是心因性疼痛。
治疗方式 编辑
目前采取酵素替代疗法,让患者两周一次,注射α-galactosidase(a-GAL)酵素药剂,可以有效缓解病情。
参考文献 编辑
- James, William D.; Elston, Dirk; Berger, Timothy; Neuhaus, Isaac. Andrews' Diseases of the Skin E-Book: Clinical Dermatology. Elsevier Health Sciences. 2015-04-12. ISBN 978-0-323-31969-0 (英语).
- Schiffmann, Raphael; Kopp, Jeffrey B.; Austin III, Howard A.; Sabnis, Sharda; Moore, David F.; Weibel, Thais; Balow, James E.; Brady, Roscoe O. Enzyme Replacement Therapy in Fabry Disease: A Randomized Controlled Trial. JAMA. 2001-06-06, 285 (21): 2743–2749 [2022-11-18]. ISSN 0098-7484. PMID 11386930. doi:10.1001/jama.285.21.2743. (原始内容存档于2020-08-12) (英语).
- Wilcox, William R.; Banikazemi, Maryam; Guffon, Nathalie; Waldek, Stephen; Lee, Philip; Linthorst, Gabor E.; Desnick, Robert J.; Germain, Dominique P.; Group, for the International Fabry Disease Study. Long-Term Safety and Efficacy of Enzyme Replacement Therapyfor Fabry Disease. The American Journal of Human Genetics. 2004-07-01, 75 (1): 65–74 [2022-11-15]. ISSN 0002-9297. PMC 1182009 . PMID 15154115. doi:10.1086/422366. (原始内容存档于2013-05-15) (英语).
外部链接 编辑
- Fabry Disease Information Page (页面存档备份,存于互联网档案馆) at NINDS
- Fabry disease (页面存档备份,存于互联网档案馆) at NLM Genetics Home Reference
- Fabry Registry
- Stroke in young Fabry patients (页面存档备份,存于互联网档案馆)
- Datagenno - Fabry Disease (页面存档备份,存于互联网档案馆)
- Support groups
- Focus on Fabry (页面存档备份,存于互联网档案馆) by Shire
- Fabry Community (页面存档备份,存于互联网档案馆) by Genzyme
- Fabry Support & Information Group (FSIG) (页面存档备份,存于互联网档案馆)
- Fabry support at MPS Society (页面存档备份,存于互联网档案馆)
- Canadian Fabry Association (页面存档备份,存于互联网档案馆)
- National Fabry Disease Foundation, USA (页面存档备份,存于互联网档案馆)
- Fabry Support Group Australia (页面存档备份,存于互联网档案馆)
- Fabry Support Group Poland by Pietka