黏多糖贮积症Ⅰ型的产前诊断。
Antenatal diagnosis of Hurler's syndrome.
作者信息
Henderson H E, Nelson M M
出版信息
S Afr Med J. 1977 Feb 19;51(8):241-3.
PMID:403618
Abstract
Hurler's syndrome was diagnosed antenatally in the two consecutive pregnancies of a mother with one affected child. In both instances, diagnosis was based upon a demonstration of the presence of unusual glycosaminoglycan components in the amniotic fluid, of abnormal metabolic activity in cultured amniotic fluid cells, and a deficiency of the lysosomal enzyme alpha-L-iduronidase in these cell homogenates. Bothe pregnancies were terminated before the 24th week and the diagnosis was confirmed by biochemical studies of the fetal livers.
摘要
在一位已有一名患病子女的母亲的连续两次妊娠中，产前诊断出了胡勒氏综合征。在这两个病例中，诊断依据是羊水内存在异常糖胺聚糖成分、培养的羊水细胞中存在异常代谢活性，以及这些细胞匀浆中溶酶体酶α-L-艾杜糖苷酶缺乏。两次妊娠均在第24周前终止，胎儿肝脏的生化研究证实了诊断。
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引用本文的文献
1
Prenatal diagnosis of Hurler's syndrome--biochemical studies on the affected fetus.黏多糖贮积症Ⅰ型（胡尔勒氏综合征）的产前诊断——对患病胎儿的生化研究
Hum Genet. 1981;59(4):353-9. doi: 10.1007/BF00295471.
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