CAJ | 학술논문

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.
측정100명체검자여1례Fabry병환자적외주혈립세포화혈장중적d-반유당감매A(α-GalA)활성.결과현시,100명수시자외주혈립세포여혈장중적α-GalA활성평균치분별위(51.97±15.24)nmol·h-1·mg-1화(148.08±26.30) nmol·h-1·ml-1；기혈장중α-Gal A활성여외주혈립세포α-Gal A활성정정상관(r=0.533,P＜0.01)；Fabry병환자외주혈립세포여혈장중α-Gal A활성분별위1.05 nmol· h-1·mg-1화10.06 nmol·h-1·ml-1,균명현저우소측정인군매활성범위하한.제시혈장여외주혈립세포α-GalA활성균가용우Fabry병적사사화진단.
α-Galactosidase A (α-Gal A ) activities in plasma and peripheral blood granulocytes of 100healthy 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 α-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 100healthy subjects.These results suggest that α-Gal A activity in plasma and peripheral blood granulocytes can be used for diagnosis and screening of Fabry disease.