法布里病[1]Fabry diseaseFabry's diseaseAnderson-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)。

法布里病
阿加糖酶β - 这种蛋白质在法布里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vertigochronic 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-115C56.01
OMIM301500
DiseasesDB4638
eMedicine951451
Orphanet324
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病因

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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

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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

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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

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  1. ^ Fabry氏病. 乐词网. 国家教育研究院.  (繁体中文)
  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. 

外部链接

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