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目的探讨邯郸地区新生儿苯丙酮尿症(PKU)的发病和治疗情况,为邯郸市新生儿PKU的防治提供流行病学资料。方法邯郸市2010年1月-2014年12月共有新生儿872 735名,筛查811 644名,应用化学荧光分析法进行PKU检测,确诊患儿给予低苯丙氨酸饮食治疗,定期检测血苯丙氨酸浓度及发育商(DQ)水平。结果 PKU患儿98例,阳性率为1.21/万,稍高于全国平均水平。邯郸地区西部PKU发病率高于东部(χ2=15.375,P=0.000)。随着治疗时间的延长,城市PKU患儿治愈率高于农村(P<0.05)。结论 PKU筛查及尽早治疗对于提高PKU的治疗效果非常重要。应加大新生儿PKU筛查的宣传力度,提高患儿家属的认知及依从性,从而提高新生儿疾病筛查的作用和价值。
Objective To investigate the incidence and treatment of neonatal phenylketonuria (PKU) in Handan area and to provide epidemiological data for the prevention and treatment of neonatal PKU in Handan. Methods A total of 872 735 newborns were enrolled in Handan from January 2010 to December 2014. 811 644 were screened. PKU detection was performed by chemiluminescence assay. Children diagnosed with low-phenylalanine diet were diagnosed, and blood benzene Alanine concentration and developer (DQ) levels. Results 98 cases of PKU children, the positive rate of 1.21 / million, slightly higher than the national average. The incidence of PKU in the west of Handan was higher than that in the east (χ2 = 15.375, P = 0.000). With the extension of treatment time, the cure rate of urban PKU children was higher than that of rural areas (P <0.05). Conclusion PKU screening and early treatment is very important for improving the curative effect of PKU. The publicity of PKU screening should be strengthened and the cognition and compliance of children’s family members should be enhanced so as to improve the function and value of neonatal screening.