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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 review the 11-year screening of neonatal phenylketonuria in Wuhan City, summarize the experience, find inadequate, and promote screening work. Methods: Newborn infants were sacrificed at 72h after birth to prepare dried filter paper. The content of Phe in the blood samples was measured. The newborn infants with Phe value ≥240μmol / L (BIA) or ≥120μmol / L (fluorescence method) Convicted initially screening positive, recalled confirmed. Results: In the past 11 years, 321,881 newborns were screened in Wuhan, 15 were diagnosed with PKU, the incidence of PKU was 0.47 / million; the incidence of PKU did not increase or decrease significantly; the incidence of PKU Fluorescence screening of the incidence of no significant difference. Conclusion: The incidence of PKU in Wuhan is at a relatively low level. Fluorescence screening is superior to BIA. Fluorescence should be used in new screening laboratories as much as possible to reduce the positive rate of primary screening and to increase the detection rate of PKU rate. To improve the screening coverage, strengthen the differential diagnosis of PKU and BH4, PKU children with phenylalanine hydroxylase gene mutations in Wuhan, PKU prenatal diagnosis provide the basis.