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目的回顾性分析2007~2016年漳州市新生儿苯丙酮尿症(PKU)筛查情况,了解该地区PKU发病情况,总结经验,以便更好的指导今后PKU筛查工作。方法应用化学荧光法进行末梢血苯丙氨酸检测,阳性病例及时召回按照PKU诊疗常规进行诊断与鉴别诊断。结果 10年间共筛查新生儿556 992名,筛查率87.20%,初筛阳性401例,召回370例,召回率91.52%;确诊PKU12例,发病率2.15/10万,其中经典型PKU 8例,四氢生物蝶呤缺乏症(BH4D)4例。结论漳州市PKU发病率明显低于全国平均水平;严格执行PKU筛查技术规范,严格质量管理,不断提高PKU筛查工作水平;加大政策支持力度,加强健康促进,建立高效的召回网络,有效提高筛查率和召回率,从而减少或避免因PKU致残儿童发生,提高漳州市出生人口素质。
Objective To retrospectively analyze the screening of neonatal phenylketonuria (PKU) from 2007 to 2016 in Zhangzhou City, understand the incidence of PKU in this area and summarize the experience in order to better guide the future PKU screening. Methods The peripheral blood phenylalanine was detected by chemiluminescence method. The positive cases were recalled in time to be diagnosed and differentiated according to the routine PKU diagnosis and treatment. Results A total of 556 992 newborns were screened during the 10 years. The screening rate was 87.20%. The initial screening was positive in 401 cases and the recall was performed in 370 cases. The recall rate was 91.52%. The number of confirmed PKU cases was 12 cases with a prevalence of 2.15 / , Tetrahydrobiopterin deficiency (BH4D) in 4 cases. Conclusion The incidence of PKU in Zhangzhou City was significantly lower than the national average; strict implementation of PKU screening technical specifications and strict quality control, and continuously improve the level of PKU screening; increase policy support, strengthen health promotion, establish an efficient recall network, effective Improve the screening rate and recall rate, thereby reducing or avoiding the occurrence of disabled children due to PKU and improving the quality of birth population in Zhangzhou.