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目的研究滤纸干血样苯丙氨酸(Phe)微量连续流动荧光法测定实验方法,并评价其在新生儿苯丙酮尿症筛查中的应用价值。方法直径3.2mm的新生儿滤纸干血样经萃取后用微量连续流动荧光分析仪测定Phe,确定苯丙酮尿症的筛查阳性临界值。结果在所建立的标本保存和分析条件下,新生儿滤纸干血样经30～120min萃取后,Phe在0～20mg/dl浓度范围内线性良好,最低检出限为0.2mg/dl。Phe高值和低值质控滤纸干血样的批内变异度分别为4.1%和5.3%,批间变异度分别为5.0%和5.6%,测定平均回收率为98.2%,并与PerkinElmer公司Phe荧光定量法测定结果高度相关。50009例新生儿滤纸干血样Phe呈非正态分布,用百分位数法(95%)确定筛查新生儿苯丙酮尿症的临界值为Phe>3.9mg/dl为阳性。苯丙酮尿症筛查阳性率为64.0/10万,发病率为16.0/10万。结论微量连续流式荧光分析法检测新生儿滤纸干血样Phe具有灵敏、特异、重复性好,为筛查新生儿苯丙酮尿症提供了简便、快速、费用低的实验方法。
Objective To study the method for the determination of phenylephrine (Phe) by filter paper dry trace fluorescence spectrometry and to evaluate its value in the screening of neonatal phenylketonuria. Methods Neonatal filter paper with a diameter of 3.2mm was used to determine the Phe after dry blood samples were extracted with a micro-continuous flow fluorescence analyzer to determine the positive screening threshold for phenylketonuria. Results Under the condition of specimen preservation and analysis, the newborn filter paper dried blood samples were extracted with 30 ~ 120min, Phe concentration was good in the range of 0 ~ 20mg / dl, the lowest detection limit was 0.2mg / dl. The intra-assay variability of Phe high and low quality control dry paper samples was 4.1% and 5.3%, respectively. The inter-assay variability was 5.0% and 5.6%, respectively. The average recovery was 98.2%. The Phe fluorescence of PerkinElmer Quantitative determination of the results are highly relevant. A total of 50009 cases of non-normal distribution of dry-like Phe in the filter paper of newborns were determined by the percentile method (95%). The critical value for detecting neonatal phenylketonuria was Phe> 3.9 mg / dl. Phenylketonuria screening positive rate was 64.0 / 100,000, the incidence rate of 16.0 / 100,000. Conclusion Micro-continuous flow fluorescence spectrometry is a sensitive, specific and reproducible method for the detection of neonatal filter paper dry blood-like Phe. It provides a simple, rapid and inexpensive experimental method for the screening of neonatal phenylketonuria.