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法布里病 [ 1] (Fabry disease ,Fabry's disease ,Anderson-Fabry disease )又称法布瑞病 ,是一种X连锁 隐性遗传的溶酶体贮积病 ,由于GLA基因突变致使细胞溶酶体内鞘糖脂 代谢异常且累积[ 2] [ 3] 。它的命名来自于它的发现者之一,约翰内斯·法布里 [ 4] (Johannes Fabry)。
此病体内负责制造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,且引起机体内一系列脏器的缺血性损害 ,严重时可能造成死亡[ 5] [ 6] [ 7] 。
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[ 8] 。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 。
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[ 9] 。
^ Fabry氏病 . 乐词网. 国家教育研究院 . (繁体中文)
^ Schiffmann R. Fabry disease. Neurocutaneous Syndromes. Handbook of Clinical Neurology 132 . 2015: 231–248. ISBN 9780444627025 . PMID 26564084 . doi:10.1016/B978-0-444-62702-5.00017-2 .
^ James, William D.; Elston, Dirk; Berger, Timothy. Andrews' Diseases of the Skin E-Book: Clinical Dermatology . Elsevier Health Sciences. 2015-04-12. ISBN 978-0-323-31969-0 (英语) .
^ Fabry J. Ein Beitrag zur Kenntniss der Purpura haemorrhagica nodularis (Purpura papulosa haemorrhagica Hebrae) [A contribution to the knowledge of the purpura haemorrhagica nodularis (purpura papulosa haemorrhagica Hebrae)] . Archiv für Dermatologie und Syphilis. December 1898, 43 (1): 187–200 [2024-09-04 ] . S2CID 33956139 . doi:10.1007/bf01986897 (不活跃 13 August 2024). (原始内容存档 于2022-01-25) (德语) .
^ Germain DP. Fabry disease . Orphanet Journal of Rare Diseases. November 2010, 5 (1): 30. PMC 3009617 . PMID 21092187 . doi:10.1186/1750-1172-5-30 .
^ Fabry disease | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program . rarediseases.info.nih.gov. [17 April 2018] . (原始内容存档 于2018-04-18) (英语) .
^ Perrot A, Osterziel KJ, Beck M, Dietz R, Kampmann C. Fabry disease: focus on cardiac manifestations and molecular mechanisms. Herz. November 2002, 27 (7): 699–702. PMID 12439642 . S2CID 25962218 . doi:10.1007/s00059-002-2429-9 .
^ Hoffmann B, Beck M, Sunder-Plassmann G, Borsini W, Ricci R, Mehta A. Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy--a retrospective analysis from the Fabry Outcome Survey. The Clinical Journal of Pain. July 2007, 23 (6): 535–542. PMID 17575495 . S2CID 36215895 . doi:10.1097/AJP.0b013e318074c986 .
^ Keating GM. Agalsidase alfa: a review of its use in the management of Fabry disease. BioDrugs. October 2012, 26 (5): 335–354. PMID 22946754 . doi:10.2165/11209690-000000000-00000 .
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) .
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