法布里病

法布瑞氏病
法布瑞氏病
	阿加糖酶β - 这种蛋白质在法布瑞氏病患者身上产生异常
症状	疼痛、限制型心肌病[]、高血压、肾功能衰竭、angiokeratoma[]、无汗症[]、cornea verticillata[]、神经病、恶心、疲倦、vertigo、chronic neuropathic pain[*]
类型	sphingolipidosis[]、developmental anomaly of metabolic origin[]、genetic skin vascular disorder[]、rare genetic epilepsy[]、syndromic dyslipidemia[]、vascular skin disease[]、肥厚性梗阻型心肌病[]、sphingolipidosis with epilepsy[]、syndromic lymphedema[]、nephropathy secondary to a storage or other metabolic disease[]、cataract associated with a metabolic disease[]、metabolic disease with corneal opacity[]、lysosomal disease with restrictive cardiomyopathy[]、lysosomal disease with hypertrophic cardiomyopathy[]、rare hereditary metabolic disease with peripheral neuropathy[]、syndrome associated with hypertrophic cardiomyopathy[]、疾病
治疗	酵素替代疗法[*]
分类和外部资源
医学专科	内分泌学、肾脏科、皮肤病学、心脏内科
ICD-11	5C56.01
OMIM	301500
DiseasesDB	4638
eMedicine	951451
Orphanet	324
	[编辑此条目的维基数据]

法布瑞氏病^[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，乔纳斯·法布瑞^[4]（Johannes Fabry）。

病因

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]。

症状

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。

治疗方式

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]。

参考文献

^ Fabry氏病. 乐词网. 国家教育研究院（中文（台湾））.
^ 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）.

外部链接

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

[1] Fabry氏病. 乐词网. 国家教育研究院（中文（台湾））.

[2] 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.

[3] 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）.

[4] 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）.

[5] 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  .

[6] 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）.

[7] 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.

[8] 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.

[9] 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.

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