法布瑞氏病

法布瑞氏病
法布瑞氏病
	阿加糖酶β - 這種蛋白質在法布瑞氏病患者身上產生異常
症状	疼痛、限制型心肌病[]、高血壓、腎功能衰竭、angiokeratoma[]、無汗症[]、cornea verticillata[]、神經病、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
治療	酵素替代療法[*]
分类和外部资源
醫學專科	內分泌學、腎臟科、皮肤病学、心臟內科
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]。它的命名來自於它的發現者之一，喬納斯·法布瑞^[4]（Johannes Fabry）。

病因

此病體內負責製造α-galactosidase（a-GAL）酵素的基因缺陷，造成體內醣神經胺醇脂質（glycosphingolipid）無法代謝，不斷堆積在細胞質及溶體中，而引發多處器官病變，且引起机体内一系列脏器的缺血性损害，嚴重時可能造成死亡^[5]^[6]^[7]。

症狀

此病的臨床症狀多變。患者在兒童或青年期，手腳末端會產生間歇性的疼痛或感覺異常，有些患者形容如火燒般劇痛，在高溫、季節變化、及運動後容易產生^[8]。經常被誤診為風濕病，關節炎，關節痛，生長痛或是心因性疼痛。

治療方式

目前採取酵素替代療法，讓患者兩週一次，注射α-galactosidase（a-GAL）酵素藥劑，可以有效緩解病情^[9]。

參考文獻

^ Fabry氏病. 樂詞網. 國家教育研究院. （繁體中文）
^ 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）.

外部連結

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. 樂詞網. 國家教育研究院. （繁體中文）

[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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