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目的回顾性总结2001～2011年湖南省苯丙酮尿症(PKU)新生儿筛查、发病情况及治疗效果。方法新生儿出生72h后经充分哺乳,采足跟血滴滤纸片,用荧光法测定血苯丙氨酸(Phe)含量。Phe大于切割值2.0mg/dl为筛查阳性,召回复查后Phe仍大于2.0mg/dl者进行确诊,并与四氢生物蝶呤缺乏症鉴别。确诊患儿长期接受低phe饮食治疗,以智能测定为疗效评估指标。结果 11年来共对湖南省2 527 084例新生儿进行了PKU筛查,筛查率从2001年1.79%上升到2011年75.2%。共检出PKU患儿75例,发病率为1/33 694。全部患儿均接受早期诊断,早期治疗。其中6岁以下,长期坚持低phe饮食治疗并定期随访患儿28例,智能发育正常。结论随着新生儿疾病筛查网络的健全,10年来我省筛查率有了显著提高。PKU发病率低于目前文献报道的全国水平。早期诊断,早期治疗是预防PKU智能发育低下的关键。进一步普及筛查,规范管理,加强对PKU家庭的社会福利支持,有利于我省新筛工作“量”与“质”的进一步提高。
Objective To retrospectively review the screening, incidence and treatment of neonatal phenylketonuria (PKU) in Hunan Province from 2001 to 2011. Methods Newborns were fully breast-fed 72h after birth, plucked with blood filter paper, and the content of Phe was measured by fluorescence method. Phe greater than the cut value of 2.0mg / dl for screening positive, recalled after review is still greater than 2.0mg / dl Phe were confirmed and identified with tetrahydrobiopterin deficiency. Children diagnosed with long-term low-phe diet, with intelligent determination of efficacy as an indicator. Results A total of 2 527 084 newborns in Hunan Province were screened for PKU in 11 years. The screening rate increased from 1.79% in 2001 to 75.2% in 2011. A total of 75 children with PKU were detected, with a prevalence of 1/33 694. All children received early diagnosis and early treatment. Among them, 6 years of age, long-term adherence to low phe diet and regular follow-up of 28 children with normal intellectual development. Conclusion With the improvement of neonatal screening network, the screening rate in our province has risen significantly over the past 10 years. The incidence of PKU is lower than the national level reported in the literature. Early diagnosis, early treatment is to prevent the key to the development of PKU low intelligence. Further popularizing the screening, standardizing management and strengthening the social welfare support for the PKU families will be conducive to the further improvement of the new screening work in our province, “quantity” and “quality”.