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[采用免疫反应性胰蛋白酶进行黏液黏稠病筛查。奥地利的初步经验]

[Mucoviscidosis screening with immunoreactive trypsin. Initial experiences in Austria].

作者信息

Eber E, Zach M, Engele H, Haas J, Pürstner P, Mutz I, Litscher H

机构信息

Universitäts-Kinderklinik, Graz.

出版信息

Monatsschr Kinderheilkd. 1992 Jul;140(7):411-5.

PMID:1501616
Abstract

Up to now, 16.338 IRT-measurements have been carried out on dried blood spot specimens; 15.505 of them were taken in the first week of life. Related to a provisionally chosen cut-off point of 750 ng/ml, 134 newborns (= 0.86%) showed an elevated IRT-value and subsequently were recalled between the fourth and sixth week of life for a second IRT-determination. Twenty-five out of 116 reinvestigated children again showed an elevated value, as based on likewise provisional, age-dependent reference values. Four of these children subsequently were identified as CF patients by sweat testing. So far, we did not encounter any false-negative IRT values. We also commenced to establish a profile of reference values for the first twelve weeks of life; as yet, there are not enough data for definitely defining these limits of normality. In conclusion, IRT-screening appears to be a reliable method for identifying CF patients in the newborn period. Our preliminary results indicate an incidence of CF of 1 to 3880 in the southeast of Austria.

摘要

到目前为止,已对干血斑标本进行了16338次免疫反应性胰蛋白酶(IRT)测量;其中15505次是在出生后第一周进行的。根据临时选定的750 ng/ml的临界值,134名新生儿(占0.86%)IRT值升高,随后在出生后第四至六周被召回进行第二次IRT测定。在116名重新检测的儿童中,有25名儿童根据同样是临时的、与年龄相关的参考值,IRT值再次升高。其中4名儿童随后通过汗液测试被确诊为囊性纤维化(CF)患者。到目前为止,我们尚未遇到任何IRT假阴性值。我们还开始建立出生后前十二周的参考值概况;目前,尚无足够数据来明确界定这些正常范围。总之,IRT筛查似乎是在新生儿期识别CF患者的可靠方法。我们的初步结果表明,在奥地利东南部CF的发病率为1/3880。

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