2022 年度遵义市 67 403 例新生儿苯丙酮尿症筛查分析

Screening Analysis of 67 403 Newborns with Phenylketonuria in Zunyi City in 2022

摘要:

〔摘 要〕 目的：分析 2022 年遵义市 67 403 例新生儿苯丙酮尿症筛查结果。 方法：选取 2022 年 1 月至 2022 年 12 月 在遵义市出生并接受苯丙酮尿症筛查的 67 403 例新生儿为研究对象，收集其足跟血干血斑样本，采用荧光分析法测定干 血斑中新生儿的苯丙氨酸指标水平，疑似阳性的新生儿进行进一步确诊。分析所有新生儿的苯丙酮尿症诊断情况。 结果：2022 年遵义市 69 394 例新生儿中总共有 67 403 例接受了苯丙酮尿症筛查，筛查率为 97.13 %，其中苯丙酮尿症的可疑阳性 数为 390 例，可疑阳性召回率为 100.00 %。390 例可疑阳性的新生儿中，确诊苯丙酮尿症的有 7 例，其中男性 2 例，女性 5 例， 确诊率为 0.010 39 %。7 例患儿中经典型苯丙酮尿症、中度苯丙酮尿症以及轻度高苯丙氨酸血症分别为 1 例（14.29 %）、 1 例（14.29 %）、5 例（71.43 %）。 结论：2022 年贵州省遵义市新生儿苯丙酮尿症筛查率为 97.13 %，苯丙酮尿症发生率为 0.010 39 %。

Abstract:

〔Abstract〕 Objective To analyze the screening results of phenylketonuria in 67 403 newborns in Zunyi City in 2022. Methods From January 2022 to December 2022, 67 403 neonates who were born in Zunyi City and received screening for phenylketonuria were selected as the research subjects. The dried blood spot samples of heel blood were collected, and the phenylalanine index level of the newborns in the dried blood spots was determined by fluorescence analysis. The suspected positive neonates were further diagnosed. All neonates were analyzed for phenylketonuria diagnoses. Results A total of 67 403 of the 69,394 newborns in Zunyi City received phenylketonuria screening in 2022, and the screening rate was 97.13 %. Among them, 390 cases were suspected positive for phenylketonuria, and the recall rate of suspected positive was 100.00 %. Among the 390 suspected positive neonates, 7 cases were diagnosed with phenylketonuria, including 2 males and 5 females, and the confirmed rate was 0.010 39 %. Among the 7 children, there were 1 (14.29 %), 1 (14.29 %), and 5 (71.43 %) cases of classic phenylketonuria, moderate phenylketonuria, and mild hyperphenylalaninemia, respectively. Conclusion In 2022, the screening rate of phenylketonuria in newborns in Zunyi City,Guizhou Province was 97.13 %, and the incidence rate of phenylketonuria was 0.010 39 %.