深圳地区新生儿苯丙酮尿症筛查中苯丙氨酸切值分析

doi:10.3969/j.issn.1671-7171.2021.09.010

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摘要【目的】探讨应用百分位数法和ROC曲线分析法评估和调整深圳地区新生儿苯丙酮尿症(PKU)筛查中的苯丙氨酸(Phe)切值。【方法】选择2018年1月至2020年12月在深圳市各医院分娩的559496例新生儿,采用荧光苯丙氨酸脱氢酶法检测Phe水平,评价现用Phe切值,确立深圳地区Phe水平最佳切值。【结果】559496例新生儿Phe水平呈偏态分布,中位数为1.06 mg/dL,最小值为0.01 mg/dL,最大值为24.55 mg/dL,95%分位数值为1.69 mg/dL,99%分位数值为1.96 mg/dL、99.5%分位数值2.18 mg/dL、99.9%分位数值2.73 mg/dL。Phe水平≥2 mg/dL原标本复查3923例,其中筛查阳性召回者3267例,根据诊断标准最终确诊患儿共33例。3267例新生儿在不同切值时的敏感度及特异度,最终将现用切值2.0 mg/dL调整为2.1 mg/dL;ROC曲线下面积为0.960,标准误为0.027,95%置信区间为0.906~1.000,有统计学意义(P<0.01)。最终将现用切值2.0 mg/dL调整为2.1 mg/dL。【结论】结合百分位数法和ROC分析法,深圳地区新生儿PKU筛查Phe最佳切值调整为2.1 mg/dL较为合适。

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	郭萌
	文伟
	詹子君
	马丽

关键词 ：苯丙酮尿症/流行病学, 苯丙氨酸/分析, 婴儿,新生,疾病, 广东

Abstract：【Objective】To evaluate and adjust the cut-off value of phenylalanine (Phe) in neonatal phenylketonuria screening in Shenzhen by percentile method and ROC curve analysis.【Methods】A total of 559,496 newborns delivered in various hospitals in Shenzhen from January 2018 to December 2020 were selected. The Phe level was detected by fluorescence phenylalanine dehydrogenase method, the current Phe cut-off value was evaluated, and the best cut-off value of Phe level in Shenzhen was established. 【Results】 The Phe level of 559,496 newborns showed a skewed distribution, with a median of 1.06 mg/dL, a minimum of 0.01 mg/dL, a maximum of 24.55 mg/dL, a 95% quantile of 1.69 mg/dL, a 99% quantile of 1.96 mg/dL, a 99.5% quantile of 2.18 mg/dL and a 99.9% quantile of 2.73 mg/dL. 3,923 cases were reexamined with Phe level ≥2 mg/dL, including 3267 cases of screening positive recall. A total of 33 cases were finally diagnosed according to the diagnostic criteria. The sensitivity and specificity of 3,267 newborns at different cut-off values were finally adjusted from the current cut-off value of 2.0 mg/dL to 2.1 mg/dL; The area under ROC curve was 0.960, the standard error was 0.027, and the 95% confidence interval was 0.906~1.000, which was statistically significant (P<0.01). Finally, the current cut-off value of 2.0 mg/dL was adjusted to 2.1 mg/dL. 【Conclusion 】Combined with percentile method and ROC analysis, it is more appropriate to adjust the best cut-off value of Phe for neonatal PKU screening in Shenzhen to 2.1 mg/dL.

Key words： Phenylketonurias/EP Phenylalanine/AN Infant, Newborn, Diseases GUANGDONG

收稿日期: 2021-03-12

中图分类号:

R725.812

通讯作者: *E-mail:1966079076@qq.com

引用本文:

郭萌, 文伟, 詹子君, 马丽. 深圳地区新生儿苯丙酮尿症筛查中苯丙氨酸切值分析[J]. 医学临床研究, 2021, 38(9): 1315-1317.
GUO Meng, WEN Wei, ZHAN Zi-jun, et al. Analysis of Phenylalanine Cut-off Value in Neonatal Phenylketonuria Screening in Shenzhen. JOURNAL OF CLINICAL RESEARCH, 2021, 38(9): 1315-1317.

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http://journal07.magtech.org.cn/yxlcyj/CN/10.3969/j.issn.1671-7171.2021.09.010 或 http://journal07.magtech.org.cn/yxlcyj/CN/Y2021/V38/I9/1315