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[使用免疫反应性胰蛋白酶血液检测法对新生儿进行粘多糖病的系统筛查。80000次检测的评估]

[Systematic neonatal screening for mucoviscidosis using an immunoreactive trypsin blood assay. Evaluation of 80,000 tests].

作者信息

Travert G, Duhamel J F

出版信息

Arch Fr Pediatr. 1983 Apr;40(4):295-8.

PMID:6882116
Abstract

The development of a simple and reliable technique of trypsin radioimmunoassay in blood eluates allowed the neonatal screening for cystic fibrosis in a province of France. The study of the distribution of blood immunoreactive trypsin levels in 79,880 five day-old neonates led to choose a cut-off value of 900 micrograms/l; this choice gives a false positive rate of 3 in 1,000. The evolution of trypsin levels according to age during the first weeks of life leads to select a "two-phase" screening strategy: only neonates whose high neonatal trypsin levels persist after the second week of life (4 in 10,000) will undergo sweat test. Twenty-three cases of cystic fibrosis were diagnosed in this study, which gives an incidence of 1 in 3,470.

摘要

一种简单可靠的血液洗脱液中胰蛋白酶放射免疫测定技术的开发,使得法国一个省份能够对新生儿进行囊性纤维化筛查。对79880名5日龄新生儿血液中免疫反应性胰蛋白酶水平分布的研究,得出选择900微克/升的临界值;这一选择给出的假阳性率为千分之三。出生后第一周内胰蛋白酶水平随年龄的变化,促使选择一种“两阶段”筛查策略:只有那些新生儿期胰蛋白酶水平高且在出生后第二周后仍持续升高的新生儿(万分之四)才会接受汗液测试。本研究中诊断出23例囊性纤维化病例,发病率为3470分之一。

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