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中国戈谢病诊治专家共识 被引量：19

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摘要 戈谢病（Gaucherdisease）是最常见的溶酶体贮积病之一，属常染色体隐性遗传病。该病由于基因突变导致机体葡萄糖脑苷脂酶（glucocerebrosidase，又称酸性β葡萄糖苷酶，acid β—glucosidase）活性缺乏，造成其底物葡萄糖脑苷脂（glucocerebroside）在肝、脾、骨骼及肺、甚至脑的巨噬细胞溶酶体中贮积，形成典型的贮积细胞即戈谢细胞，导致受累组织器官出现病变。临床表现为多脏器受累，呈进行性，
机构地区 溶酶体贮积病医疗协作组《中国戈谢病诊治专家共识》编委会
出处 《中华医学杂志》 CAS CSCD 北大核心 2011年第10期665-668,共4页 National Medical Journal of China
关键词 戈谢病 葡萄糖脑苷脂酶 常染色体隐性遗传病 细胞溶酶体 专家 诊治 中国 溶酶体贮积病
分类号 R596 [医药卫生—内科学]
  • 相关文献

参考文献12

  • 1张永红.戈谢病的临床研究进展[J].中华医学杂志,2009,89(40):2879-2880. 被引量：8
  • 2张为民,邓亮生,孟岩,姚凤霞,邱正庆,段彦龙,黄尚志,施惠平.中国人戈谢病基因突变的分析[J].中华医学杂志,2009,89(48):3397-3400. 被引量：41
  • 3Weinreb NJ, Andersson HC, Banikazemi M, et al. Prevalence of type 1 Gaucher disease in the United States. Arch Intern Med, 2008,168:326-327.
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二级参考文献22

  • 1段彦龙,张永红,臧晏,施惠平,张为民,胡亚美.酶替代治疗戈谢病72例[J].中华儿科杂志,2006,44(9):653-656. 被引量：36
  • 2Beutler E,Grabowski GA.Glueosylceramide lipidosis-Gaueher disease.Seriver CR,Beaudet al.,Sly WS,Valle D,etc.The metabolic and molecular bases of inherited diseases.8th edn.New York:McGraw-Hill,2001:3635-3668.
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  • 5Elleder M.Glucosylceramide transfer from lysosomes-the missing link in molecular pathology of giucosylceramidase deficiency:a hypothesis based on existing data.J Inherit Metab Dis,2006,29:707-715.
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共引文献42

同被引文献173

引证文献19

二级引证文献84

中华医学杂志
2011年 第10期

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