Svennerholm L, Håkansson G, Lindsten J, Wahlström J, Dreborg S
Clin Genet. 1981 Jan;19(1):16-22. doi: 10.1111/j.1399-0004.1981.tb00661.x.
Sixteen pregnancies at risk for Gaucher disease -- six with the Norrbottnian form, one with a juvenile form with a similar clinical course to the patients from Norrbotten and nine with the infantile from -- have been monitored by the assay of beta-glucosidase activity in cultivated amniotic fluid cells with natural labelled glycosylceramide as substrate. Two methods of cultivation were compared in respect of their effect on the activity of lysosomal enzymes. No significant difference was found between the two marker enzymes, beta-galactosidase and N-acetyl-beta-glucosaminidase, but the beta-glucosidase activity was significantly higher in the cells cultivated with one of the methods. In four of the pregnancies at risk, the beta-glucosidase activity in the cultivated amniotic fluid cells was less than 5% of that in the two control materials. These fetuses were regarded as affected with Gaucher disease and were aborted. Differentiation between controls and Gaucher heterozygotes was not possible in cultivated amniotic fluid cells. The diagnosis of Gaucher disease in the amniotic fluid cells was confirmed in three of the four cases by the assay of the beta-glucosidase activity in the liver nd brain of the aborted fetuses. The glucosylceramide content of the liver from two aborted fetuses was not augmented. The beta-glucosidase activity was examined in seven placentas from pregnancies at risk for Gaucher disease and found to be in agreement with that in the cultivated amniotic fluid cells.
对16例有戈谢病风险的妊娠进行了监测——6例为诺尔伯特型，1例为青少年型，其临床病程与诺尔伯特患者相似，9例为婴儿型——通过以天然标记的糖基神经酰胺为底物，检测培养的羊水细胞中的β-葡萄糖苷酶活性来进行监测。比较了两种培养方法对溶酶体酶活性的影响。两种标记酶β-半乳糖苷酶和N-乙酰-β-葡萄糖胺酶之间未发现显著差异，但用其中一种方法培养的细胞中β-葡萄糖苷酶活性显著更高。在4例有风险的妊娠中，培养的羊水细胞中的β-葡萄糖苷酶活性低于两种对照材料的5%。这些胎儿被认为患有戈谢病并被终止妊娠。在培养的羊水细胞中无法区分对照和戈谢病杂合子。通过检测流产胎儿肝脏和大脑中的β-葡萄糖苷酶活性，在4例中的3例中证实了羊水细胞中戈谢病的诊断。两个流产胎儿肝脏中的葡萄糖基神经酰胺含量未增加。检测了7例有戈谢病风险妊娠的胎盘的β-葡萄糖苷酶活性，发现与培养的羊水细胞中的活性一致。
