戈谢病的宫内诊断。
In utero diagnosis of Gaucher disease.
作者信息
Kitagawa T, Owada M, Sakiyama T, Aoki K, Kamoshita S, Amenomori Y, Kobayashi T
出版信息
Am J Hum Genet. 1978 May;30(3):322-7.
Beta-Glucosidase activity measured by synthetic substrate at pH 4.6 was low in the cultured amniotic cells from two pregnant women at risk for juvenile and adult type Gaucher disease. The diagnosis was confirmed by showing a low activity of beta-glucosidase in the skin fibroblasts with a synthetic substrate or in the spleen with a natural substrate, and by ascertaining the presence of Gaucher cells in the fetal tissues. However, considerable activity of beta-glucosidase measured with synthetic substrate was found in the liver of both affected fetuses and in the spleen of one. It is advisable that the determination of beta-glucosidase to confirm prenatal diagnosis of Gaucher disease be done either in the cultured skin fibroblasts or in the spleen, and if in the spleen, with a natural substrate rather than a synthetic one.
在两名有青少年型和成人型戈谢病风险的孕妇的培养羊水中，通过合成底物在pH 4.6条件下测得的β-葡萄糖苷酶活性较低。通过在皮肤成纤维细胞中用合成底物或在脾脏中用天然底物显示β-葡萄糖苷酶活性低，并通过确定胎儿组织中存在戈谢细胞，确诊得以证实。然而，在两个受影响胎儿的肝脏以及其中一个胎儿的脾脏中，发现用合成底物测得的β-葡萄糖苷酶有相当高的活性。建议在培养的皮肤成纤维细胞或脾脏中进行β-葡萄糖苷酶测定以确诊戈谢病的产前诊断，如果在脾脏中进行测定，则使用天然底物而非合成底物。
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