粘多糖贮积症Ⅵ型的病例诊断与产前诊断  

Diagnosis and prenatal diagnosis of mucopolysaccharidosis type Ⅵ.

作　　者：郭玉凤[1] 施惠平[1] 张为民[1] 罗会元[1] 韩璐亚 赵时敏[1] 

机构地区：[1]中国医学科学院基础医学研究所医学遗传室,北京红十字朝阳医院妇产科遗传室,北京协和医院儿科

出　　处：《中国优生与遗传杂志》1995年第2期21-23,4,共4页Chinese Journal of Birth Health & Heredity

基　　金：卫生部"八.五"课题基金

摘　　要：建立了微量测定芳基硫酸酯酶Ｂ活性的方法。对二例粘多糖贮积症Ⅵ型进行病例诊断，并对其中一个家系的高危孕妇于孕中期进行产前诊断，结果判断胎儿正常，婴儿出生后验证正常。The method for microanalysis of arylsulphatase B was set up.The diagnosis of two cases mucopolysaccharidosis type Ⅵ (Maroteaux-Lamy syndrome) and prenatal diagnosis in one high risk pregnancy were reported in this paper.The arylsulphatase B activities of leukocytes from patients are below 10%of the mean of normal control. The fetus was diagnosed normal prenatally and confirmed after the birth of the bady.

关 键 词：病例诊断 粘多糖贮积症 产前诊断 正常 出生后 高危孕妇 家系 芳基 硫酸酯 微量测定 

分 类 号：R714[医药卫生—妇产科学] R58[医药卫生—临床医学]