Aula P, Rapola J, Autio S, Raivio K, Karjalainen O
J Pediatr. 1975 Aug;87(2):221-6. doi: 10.1016/s0022-3476(75)80583-x.
Increased activity of several lysosomal hydrolases was demonstrated in amniotic fluid from a fifteenth week pregnancy in which the fetus had I-cell disease. Cultured cells from amniotic fluid had a decreased activity of the same enzymes. The diagnosis of I-cell disease was later confirmed by enzyme assays in cell cultures of fetal skin and by morphologic studies of several tissues from the aborted fetus. Electron microscopic studies of the fetal tissues and cultured fibroblasts had large numbers of typical inclusions of I-cell disease, thus substantiating the diagnosis and intrauterine manifestation of the disease. The results indicate that prenatal diagnosis of I-cell disease is possible with enzyme assays of amniotic fluid and in cultures of fetal cells from the fluid. Enzyme studies of amniotic fluid can provide a preliminary diagnosis within a few hours, but it is suggested that the definitive diagnosis should be based on assays in cultured cells from amniotic fluid.
在一名妊娠15周胎儿患有I细胞病的孕妇羊水中，检测到几种溶酶体水解酶的活性增加。羊水培养细胞中这些酶的活性降低。I细胞病的诊断后来通过胎儿皮肤细胞培养中的酶测定以及流产胎儿多个组织的形态学研究得以证实。对胎儿组织和培养的成纤维细胞的电子显微镜研究发现大量典型的I细胞病包涵体，从而证实了该疾病的诊断及其宫内表现。结果表明，通过羊水酶测定和羊水胎儿细胞培养可以对I细胞病进行产前诊断。羊水酶研究可在数小时内提供初步诊断，但建议最终诊断应基于羊水培养细胞的测定。
