α-半乳糖苷酶A活性检测对Fabry病筛查和诊断的意义

Clinical significance of a-galactosidase A activity assay in the screening and diagnosis of Febry disease

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Ⅱ．半乳糖苷酶A（a-Ga1A）活性。结果显示，100名受试者外周血粒细胞与血浆中的a-GalA活性平均值分别为（51．97±15．24）nmol·h^-1·mg。和（148．08±26．30）nmol·h^-1·ml^-1；其血浆中a—GalA活性与外周血粒细胞仅．GalA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a-GalA活性分别为1．05nmol·h^-1·mg。和10．06nmol·h～·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a-GalA活性均可用于Fabry病的筛查和诊断。

a-Galactosidase A （a-GalA ） activities in plasma and peripheral blood granulocytes of 100 healthy subjects and one patient with Fabry disease was determined by means of fluorogenic substrate. The results showed that the enzymatic activities of peripheral blood granulocytes and plasma in 100 subjects were （ 51.97 ±15.24 ） and（ 148.08± 26. 30 ） nmol h-1 ml-1 respectively. The a-Gal A activities in plasma and granulocytes were positively correlated（ r= 0. 533, P〈0.01 ）. The enzymatic activities in peripheral blood granulocytes and plasma of the patients with Fabry disease were 1.05 and 10. 06 nmol h-1 ml-1 respectively, both much lower than those of 100 healthy subjects. These results suggest that a-Gal A activity in plasma and peripheral blood granulocytes can be used for diagnosis and screening of Fabry disease.