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α-半乳糖苷酶A缺乏病与青年缺血性卒中的研究进展 被引量：2

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摘要 α-半乳糖苷酶A缺乏病（α-GalA,以下简称Fabry病）又称Anderson-Fabry病、法布里病,是一种十分罕见的X染色体连锁隐性遗传性疾病.其发病机制是由于Xq22上的基因突变或缺失,引起其编码产物α-半乳糖苷酶部分或全部缺乏,导致其代谢底物三聚己糖神经酰胺（globotriao sylceramide,Gb3）不能降解,在肾脏、心脏、血管壁和神经系统等组织细胞中进行性病理性堆积,继而引起多系统、多脏器的损害[1].
作者 薛素芳 宋晓微 武剑
机构地区 首都医科大学宣武医院神经内科
出处 《中国脑血管病杂志》 CAS 2014年第2期96-99,共4页 Chinese Journal of Cerebrovascular Diseases
基金 国家自然科学基金资助项目(81371291)
关键词 法布里病 脑缺血 卒中 综述
分类号 R743.3 [医药卫生—神经病学与精神病学]
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参考文献39

  • 1Blaydon D, Hill J, Winchester B. Fabry disease:20 novel GLA mutations in 35 families [ J]. Hum Mutat, 2001,18 (5) :459.
  • 2Zarate YA, Hopkin R]. Fabry disease [ J ]. Lancet, 2008, 372 ( 9647 ) : 1427-1435.
  • 3Spada M, Pagliardini S, Yasuda M, et al. High incidence of later-onset Fabry disease revealed by newborn screening [Jl-Am J Hum Genet,2006,79(1) :31-40.
  • 4Meikle PJ, Hopwood JJ, Clague AE, et al. Prevalence of lysosomal storage disorders [ J ]. JAMA, 1999,281 ( 3 ) : 249-254.
  • 5Brady RO, Schiffmann R. Clinical features and recentadvances in therapy for Fabry disease [ J ]. JAMA, 2000, 284(21 ) :2771-2775.
  • 6Nakao S, Takenaka T, Maeda M, et al. An atypical variant of Fabry's disease in men with left ventricular hypertrophy [ J ]. N Engl J Med, 1995,333 (5) :288-293.
  • 7Nakao S, Kodama C, Takenaka T, et al. Fabry disease : detection of undiagnosed hemodialysis patients and identification of a" renal variant" phenotype [ J ]. Kidney Int,2003,64 (3) :801-807.
  • 8Eng CM, Guffon N, Wilcox WR, et al. Safety and efficacy of recombinant human ot-galactosidase A: replacement therapy in Fabry's disease[ J]. N Engl J Med,2001,345 ( 1 ) :9-16.
  • 9Metha A, Beck M, E11iott P, et al. Enzyme replacement therapy with agalsidase alfa in patients with Fabry' s disease : an analysis of registry data [ J ]. Lancet, 2009, 374(9706) : 1986-1996.
  • 10Mehta A, Ricci R, Widmer U, et al. Fabry disease defined : baseline clinical manifestations of 366 patients in the Fabry Outcome Survey [ J ]. Eur J Clin Invest, 2004,34 ( 3 ) :236-242.

同被引文献60

  • 1洪道俊,吴裕臣.缺血性卒中新的危险因素[J].国外医学（脑血管疾病分册）,2005,13(6):437-440. 被引量：10
  • 2陈佳韵,王朝晖,潘晓霞,王伟铭,任红,陈晓农,巫永睿,陆颖,陈楠.Fabry病家系的α-半乳糖苷酶A基因突变研究[J].中华肾脏病杂志,2005,21(11):654-658. 被引量：14
  • 3韩姗,丛洪良.原发性高血压的基因机制-RAAS系统基因多态性[J].中国心血管杂志,2007,12(2):138-140. 被引量：3
  • 4Peters FP,Vermeulen A,Kho TL.Anderson-Fabry's disease:alpha-galactosidase deficiency[J].Lancet,2001,357(9250):138-140.
  • 5Germain DP,Giuqliani R.Safety and pharmacodynamic effects of a pharmacological chaperone on alpha-galactosidase A activity and globotriaosylceramide clearance in Fabry disease:report from two phase 2 clinical studies[J].Orphanet J Rare Dis,2012,7(1):91-101.
  • 6Germain DP,Boucly C,Carlier RY,et al.Enzyme replacement therapy of lysosomal storage diseases[J]Rev Med Interne,2010,31(Suppl 2):279-291.
  • 7Biegstraaten M,van Schaik IN,Wieling W,et al.Autonomic neuropathy in Fabry disease:a prospective study using the autonomic symptom profile and cardiovascular autonomic function tests[J].BMC Neurol,2010,10(2):38-46.
  • 8Kocen RS,Thomas PK.Peripheral nerve involvement in Fabry's disease[J].Arch Neurol,1970,22(1):81-88.
  • 9Liquori R,Di Stasi V,Bugiardini E,et al.Small fiber neuropathy in female patients with Fabry disease[J].Muscle Nerve,2010,41(3):409-412.
  • 10Rota E,Morelli N,Terlizzi E,et al.Missing link:could the elusive Wartenberg's neuritis be a peripheral nerve variant of Fabry's disease?[J].Neurol India,2014,62(2):219-221.

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中国脑血管病杂志
2014年 第2期

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