沃曼病的产前诊断

Prenatal diagnosis of Wolman disease.

作者信息

Coates P M, Cortner J A, Mennuti M T, Wheeler J E

出版信息

Am J Med Genet. 1978;2(4):397-407. doi: 10.1002/ajmg.1320020409.

DOI:10.1002/ajmg.1320020409

Abstract

Two pregnancies at risk for Wolman disease were monitored by assay and electrophoresis of acid lipase in cultured amniotic-fluid cells. Cells from patient 1 had 5% of control levels of acid lipase, using 14C-triolein as substrate; however, when artificial substrates (esters of 4-methylumbelliferone and p-nitrophenol) were used to measure acid lipase, these cells had 30% of control levels. Electrophoresis of cell extracts revealed the absence of the A form of acid lipase, consistent with the diagnosis of Wolman disease. Analysis of fetal tissues following prostaglandin termination of this pregnancy confirmed the diagnosis. Assay of fetal-skin fibroblasts with 14C-triolein, as well as with artificial substrates, showed marked deficiency of acid lipase activity. Electrophoresis of fetal-tissue extracts also demonstrated the absence of the A form of acid lipase. Amniotic-fluid cells from patient 2 showed normal levels of acid lipase with all substrates tested; the electrophoretic pattern of acid lipase was normal. The results suggest that the prenatal diagnosis of Wolman disease be made using the radioassay of acid lipase and/or electrophoresis.

摘要

通过对培养的羊水细胞中的酸性脂肪酶进行检测和电泳，对两例有患沃尔曼病风险的妊娠进行了监测。以14C-三油酸甘油酯为底物时，患者1的细胞中酸性脂肪酶水平为对照水平的5%；然而，当使用人工底物（4-甲基伞形酮和对硝基苯酚的酯）来测量酸性脂肪酶时，这些细胞的水平为对照水平的30%。细胞提取物的电泳显示酸性脂肪酶A形式缺失，这与沃尔曼病的诊断一致。在通过前列腺素终止此次妊娠后对胎儿组织进行分析，证实了诊断。用14C-三油酸甘油酯以及人工底物对胎儿皮肤成纤维细胞进行检测，结果显示酸性脂肪酶活性明显缺乏。胎儿组织提取物的电泳也显示酸性脂肪酶A形式缺失。患者2的羊水细胞在所有检测底物中均显示酸性脂肪酶水平正常；酸性脂肪酶的电泳图谱正常。结果表明，可使用酸性脂肪酶放射测定法和/或电泳进行沃尔曼病的产前诊断。