α-半乳糖苷酶A活性检测对Fabry病筛查和诊断的意义
Chinese Journal of Endocrinology and Metabolism（2012）
Abstract
测定100名体检者与1例Fabry病患者的外周血粒细胞和血浆中的d-半乳糖苷酶A(α-GalA)活性.结果显示,100名受试者外周血粒细胞与血浆中的α-GalA活性平均值分别为(51.97±15.24)nmol·h-1·mg-1和(148.08±26.30) nmol·h-1·ml-1；其血浆中α-Gal A活性与外周血粒细胞α-Gal A活性呈正相关(r=0.533,P＜0.01)；Fabry病患者外周血粒细胞与血浆中α-Gal A活性分别为1.05 nmol· h-1·mg-1和10.06 nmol·h-1·ml-1,均明显低于所测定人群酶活性范围下限.提示血浆与外周血粒细胞α-GalA活性均可用于Fabry病的筛查和诊断.
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Key words
Fabry disease,α-Galactosidase A,Peripheral blood granulocytes,Plasma,Screening
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