摘要
Fabry病是一种X连锁方式遗传的溶酶体贮积病,其发病机制为编码α半乳糖苷酶A(α-Gal A)的GLA基因发生突变,相应的酶功能缺失导致神经酰胺三己糖苷(Gb3)为主的鞘糖脂类物质在各种组织细胞内堆积,引起全身多系统病变。为提高对本病的认识,本文系统性回顾疾病相关临床表现,诊断体系和综合治疗尤其是酶替代治疗的最新进展。
As an X-linked lysosomal storage disease, Fabry disease results from mutations in the GLA gene that encodes the lysosomal enzyme a-galactosidase A. A functionally relevant reduction of the enzyme activity results in the accumulation of glycosphingolipid, predominantly globotriaosylceramide （Gb3）, within multiple tissues, which causes systemic manifestations. In order to improve the understanding of Fabry disease, here we systematically review its manifestations, diagnostic system and treatment including enzyme replacement therapy.
出处
《中华肾病研究电子杂志》
2012年第1期36-38,共3页
Chinese Journal of Kidney Disease Investigation（Electronic Edition）
基金
国家重点基础研究发展计划(973计划)(2012CB517604)
上海市科委2011年度科技创新行动计划重大科技项目资助(11DZ1950307)
关键词
法布雷病
生物学标记
酶替代治疗
Fabry disease
Biological markers
Enzyme replacement therapy
