摘要
目的:回顾武汉市新生儿苯丙酮尿症11年筛查情况,总结经验、查找不足,促进筛查工作。方法:新生儿出生后72h,采足跟末梢血制成滤纸干血片,检测血片中Phe含量,将Phe值≥240μmol/L(BIA法)或≥120μmol/L(荧光法)的新生儿判为初筛阳性,召回复查确诊。结果:11年来,武汉市筛查新生儿321881例,确诊PKU患儿15例,PKU发病率为0.47/万;PKU发病率无显著上升或下降趋势;用BIA法筛出的PKU发病率与用荧光法筛出的发病率无显著差异。结论:武汉市PKU发病率处于相对稳定的较低水平,用荧光法筛查要优于BIA法,新筛实验室应尽可能使用荧光法,既可降低初筛阳性率,又能提高检出率。要提高筛查覆盖率,加强PKU与BH4的鉴别诊断,研究武汉市PKU患儿家族苯丙氨酸羟化酶基因突变情况,为PKU的产前诊断提供依据。
Objective： To explore the morbidity of PKU in Wtahan for 11 years, to find better way to guide the future screening. Methods： A drop of plantar blood was obtained from newborns 72 hours after delivery, onto a filter paper and mode it dry. Blood levels of PHE were detected by BIA and FEIA method. The test results were regarded as positive when PHE value≥240μmol/L（BIA） or ≥120μmol/L （fluorometric method）. All poaity/e cases were called back for further diagnosis tesL Results： Among 321 881 cases, 15 cases were diagnosed PKU, the PKU morbidity rate was 0. 47/10 000, the trends of morbidity had no significant increase or decrease througout 11 years. There was no significant differences in PKU morbidity between BIA method and fluorometric method. Conclusion： PKU morbidity in Wuhan is in stabilizing relatively lower level, fluorometrie method is better than BIA method. Neonate screening laboratory should use fluoremetrie method as far as possible to reduce false positive rate during first screening and improve ture eases to be found. To raise screening coverage rate in future and to reinforce distinguished diagnosis between PKU and the BH4 are necessary to study phenylalanine hydroxylase gene mutation of Wuhan PKU infants family in order to provide basis for antenatal PKU diagnosis.
出处
《中国妇幼保健》
CAS
北大核心
2008年第28期3979-3980,共2页
Maternal and Child Health Care of China
