古巴采用超微量荧光检测法进行苯丙酮尿症新生儿筛查。

Cuban neonatal screening of phenylketonuria using an ultramicro-fluorometric test.

作者信息

González Ernesto Carlos, Frómeta Amarilys, del Río Lesley, Castells Elisa, Robaina Martha S, García Susana M, Licourt Tania, Arteaga Ana L, Martínez Laritza

机构信息

Immunoassay Center, 134th Street and 25th Avenue, Postal Code 6653, Cubanacan, Playa, Havana, Cuba.

出版信息

Clin Chim Acta. 2009 Apr;402(1-2):129-32. doi: 10.1016/j.cca.2008.12.039. Epub 2009 Jan 11.

DOI:10.1016/j.cca.2008.12.039

PMID:19168043

Abstract

BACKGROUND

Guthrie's bacterial inhibition assay was used in Cuba, since 1983. A decentralized program for the newborn screening of hyperphenylalaninemias started in the year 2000 using an ultramicro-fluorometric test (UMTEST PKU).

METHODS

A simple and rapid ultramicro-fluorometric test based on McCaman and Robin's method has been designed, developed and applied for the measurement of Phe in dried blood spots on filter paper.

RESULTS

The UMTEST PKU exhibited an acceptable precision and accuracy. Samples of 27528 newborns on filter paper Schleicher & Schuell 903 (S&S 903) from the National neonatal screening program were collected and analyzed, and the mean Phe concentration was 66.5 micromol/l. Our assay showed high Pearson and concordance correlations with 2 commercially available kits. A total of 521923 Cuban newborns were studied from the year 2000 to 2007 using the UMTEST PKU. Elevated blood phenylalanine levels were found in 1764 infants (0.34%) and no false negative were noted. Ten cases were diagnosed with phenylketonuria, all of them with an initial phenylalanine concentration over 360 micromol/l.

CONCLUSIONS

The analytical performance characteristics of our assay and its use in the National program have demonstrated its suitability for the neonatal screening of PKU.

摘要

背景

自1983年以来，古巴一直使用古思里细菌抑制试验。2000年启动了一项分散式新生儿高苯丙氨酸血症筛查计划，采用超微量荧光检测法（UMTEST PKU）。

方法

基于麦卡曼和罗宾方法设计、开发了一种简单快速的超微量荧光检测法，并将其应用于滤纸干血斑中苯丙氨酸的测定。

结果

UMTEST PKU显示出可接受的精密度和准确度。收集并分析了国家新生儿筛查计划中27528名新生儿在施莱歇尔&舒尔903滤纸（S&S 903）上的样本，苯丙氨酸平均浓度为66.5微摩尔/升。我们的检测方法与2种市售试剂盒显示出高度的皮尔逊相关性和一致性相关性。2000年至2007年，共对521923名古巴新生儿使用UMTEST PKU进行了研究。在1764名婴儿（0.34%）中发现血苯丙氨酸水平升高，未发现假阴性。10例被诊断为苯丙酮尿症，所有病例初始苯丙氨酸浓度均超过360微摩尔/升。