滨州地区新生儿苯丙酮尿症筛查结果分析
【中图分类号】R272.1 【文献标识码】D【文章编号】1672-5085(2008)03-0227-02【摘要】目的：通过对苯丙酮尿症(Phenylketonuria,PKU)疾病的筛查，了解本地区新生儿PKU发病率，以便做到早诊断、早治疗。方法：对2002年1月~2006年12月169496例新生儿进行PKU筛查, 新生儿出生72小时后，充分哺乳后取足跟血，滴于特殊滤纸上干燥，采用细菌抑制法，测定血苯丙氨酸(phe)浓度, Phe浓度≥4mg/dl即为阳性。结果：筛查新生儿169496例,发现PKU患儿17例, 发病率为1/9970。结论：滨州地区PKU发病率高于我国PKU的平均发病率，低于本省孙萍等1/6750的报道。开展新生儿疾病筛查，早期发现是抢救患儿的关键，大力推广普及新生儿PKU的筛查工作对提高出生人口素质具有重要意义。
【关键词】新生儿；苯丙酮尿症；筛查
The shore state area newborn benzene oxonemia sieves looks up the result analysis Wang Taifeng Sun Chaoying Wang Zhiting Wang Hao
【Abstract】 Objective:Through to the benzene oxonemia (Phenylketonuria, PKU) the disease sieves looks up, understands this local newborn PKU disease incidence rate, in order to achieves early diagnoses, early treats. Method: ~2006 year in December 169,496 examples newborns carry on PKU to January, 2002 to sieve look up, after the newborn is born for 72 hours, after full nursing takes the blood, the drop is dry on the special filter paper, uses the bacterium to damp the facture, the determination blood phenylalanine (phe) the density, Phe density≥4mg/dl is the masculine gender. Reswtt: Sieves looks up the newborn 169,496 examples, discovered the PKU trouble 17 examples, the disease incidence rate is 1/9,970. Conclusion: The shore state area PKU disease incidence rate is higher than our country PKU the average disease incidence rate, is lower than this province Sun Ping and so on 1/6750 report. Launches the newborn disease to sieve looks up, the early discovery rescues the trouble key, vigorously promotes popularizes newborn PKU to sieve looks up the work to improve the birth human quality to have the vital significance. ......
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