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一例异染性脑白质营养不良的产前诊断(作者译)

[Prenatal diagnosis of a case of metachromatic leucodystrophy (author's transl)].

作者信息

Harzer K, Zahn V, Stengel-Rutkowski S, Gley E O

出版信息

Dtsch Med Wochenschr. 1975 Apr 25;100(17):951-3.

PMID:1122864
Abstract

Metachromatic leucodystrophy was diagnosed from cell-free amniotic fluid (marked deficiency of arylsulphatase A) in the 20th week of pregnancy of a woman whose two previous children also had the disease. The pregnancy was immediately terminated. Subsequent amniotic cell culture also revealed a very low arylsulphatase concentration corresponding to the values found in amniotic fluid. An about four-fold increase of metachromatic material was found in the formalin-fixed brain of the aborted fetus.

摘要

在一名妇女怀孕20周时,通过无细胞羊水(芳基硫酸酯酶A严重缺乏)诊断出异染性脑白质营养不良,该妇女的前两个孩子也患有这种疾病。妊娠立即终止。随后的羊水细胞培养也显示芳基硫酸酯酶浓度非常低,与羊水中发现的值一致。在流产胎儿经福尔马林固定的大脑中发现异染物质增加了约四倍。

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