Higami S, Omura K, Nishizawa K, Yamashita T, Tada K
Tohoku J Exp Med. 1978 May;125(1):11-7. doi: 10.1620/tjem.125.11.
Prenatal diagnosis was successfully accomplished by determining sphingomyelinase activity in the cultured amniotic fluid cells in a case of high risk pregnancy for Niemann-Pick disease (NPD), type A. No detectable activity of sphingomyelinase was found in the cultured amniotic fluid cells obtained at the 17th week of gestation. Patient's pregnancy was terminated and the aborted fetus was proved to be affected with NPD. The liver, brain and skin fibroblasts from the aborted fetus revealed a markedly diminished activity of sphingomyelinase. Sphingomyelin content in the liver of the affected fetus was found to be increased approximately sevenfold as compared with that in a control fetus liver. On the other hand, there was no increase of sphingomyelin in the brain from the affected fetus. No significant increase in cholesterol content was found in the liver and brain from the affected fetus. Electron-microscopic findings revealed membranous cytoplasmic bodies and electron dense material with vacuoles in cytoplasm of the liver cell and a number of Zebra body-like inclusions in the cerebral vessel wall. Biochemical and histological findings of the NPD fetus indicate that there is the progress of the disorder already in the midtrimester of gestation.
在一例A型尼曼-匹克病（NPD）高危妊娠病例中，通过测定培养羊水细胞中的鞘磷脂酶活性成功完成了产前诊断。在妊娠第17周获取的培养羊水细胞中未检测到鞘磷脂酶活性。患者终止妊娠，流产胎儿被证实患有NPD。流产胎儿的肝脏、大脑和皮肤成纤维细胞显示鞘磷脂酶活性明显降低。与对照胎儿肝脏相比，患病胎儿肝脏中的鞘磷脂含量增加了约7倍。另一方面，患病胎儿大脑中的鞘磷脂没有增加。患病胎儿的肝脏和大脑中胆固醇含量没有显著增加。电子显微镜检查结果显示，肝细胞质中有膜性细胞质体和含有空泡的电子致密物质，脑血管壁中有许多类斑马体样包涵体。NPD胎儿的生化和组织学检查结果表明，该疾病在妊娠中期已经进展。
