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新生儿囊性纤维化筛查

Cystic-fibrosis screening in the newborn.

作者信息

Crossley J R, Berryman C C, Elliott R B

出版信息

Lancet. 1977 Nov 26;2(8048):1093-5. doi: 10.1016/s0140-6736(77)90543-8.

Abstract

In a new method of testing stool samples from newborn babies for cystic fibrosis (C.F.), a colourless substrate, benzoyl-arginine-p-nitroanilide (B.A.P.N.A.), releases yellow p-nitroaniline when hydrolysed by trypsin. Samples from infants with C.F., who lack trypsin, give negligible colour. 2 infants with C.F. were detected among 2500 consecutive newborn babies tested. The incidence of false-positive results was 1.2% after the first specimen and 0.05% after the second specimen. A further refinement has reduced the positive rate to 0.1% after the first specimen (2000 samples). Tests on samples from 5 other older patients with untreated C.F. have yielded no evidence for false-negative results.

摘要

在一种用于检测新生儿粪便样本是否患有囊性纤维化(C.F.)的新方法中,一种无色底物苯甲酰 - 精氨酸 - 对硝基苯胺(B.A.P.N.A.)在被胰蛋白酶水解时会释放出黄色的对硝基苯胺。来自缺乏胰蛋白酶的囊性纤维化婴儿的样本几乎没有颜色变化。在连续检测的2500名新生儿中,检测出2名患有囊性纤维化的婴儿。首次检测后假阳性结果的发生率为1.2%,第二次检测后为0.05%。进一步改进后,首次检测(2000个样本)后的阳性率降至0.1%。对另外5名未经治疗的囊性纤维化成年患者的样本进行检测,未发现假阴性结果的证据。

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