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目的检测硫酸艾杜糖-2-硫酸酯酶酶活性,对粘多糖贮积症Ⅱ型疾病进行诊断及产前诊断。方法设置荧光检测仪激发波长355μm,发射波长460μm,检测处理后的血浆或细胞上清液。结果共测17标本,门诊患者10例,其中1例为女性,硫酸艾杜糖-2-硫酸酯酶酶活性均异常;胎儿产前诊断7例,根据酶活性结果判定5例正常,2例患病。结论荧光酶学方法检测粘多糖贮积症Ⅱ型疾病操作快速、诊断明确。
Objective To detect the enzyme activity of idosulphate-2-sulfatase sulfate, and to diagnose and prenatal diagnosis of mucopolysaccharidosis type Ⅱ disease. Methods Fluorescence detector with excitation wavelength of 355μm and emission wavelength of 460μm was used to detect the plasma or supernatant after treatment. Results Totally 17 specimens and 10 outpatients were diagnosed. Among them, 1 was female and the activity of idurase-2-sulfatase was abnormal. Seven fetuses were diagnosed prenatally, and 5 were normal and 2 Ill. Conclusion The method of fluorescence enzymology to detect mucopolysaccharidosis type Ⅱ disease is rapid and the diagnosis is clear.