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目的:掌握新生儿苯丙酮尿症(PKU)筛查、发病情况及治疗效果。方法:新生儿出生72 h后经充分哺乳,采足跟血3滴渗在滤纸片上,用荧光法测定血苯丙氨酸(Phe)含量。Phe≥2.0 mg/dl为筛查阳性,召回复查后仍大于切值者进行确诊,并与四氢生物蝶呤缺乏症鉴别。对确诊患儿接受低苯丙氨酸饮食治疗,长期督导随访。结果:筛查覆盖率从2009年的29.25%上升到2012年的94.31%,4年共筛查108 308例新生儿,确诊PKU患儿23例,发病率为2.12/万。接受治疗的患儿有12例,放弃8例,死亡3例。长期坚持低苯丙氨酸饮食规范治疗患儿9例,智能发育正常。结论:天水地区新生儿PKU发病率高于全国平均水平;及早诊断治疗可以避免和减少患儿智力低下的发生;家庭经济收入情况、家长的态度和配合治疗的程度直接影响患儿治疗效果。
Objective: To master neonatal phenylketonuria (PKU) screening, incidence and treatment effect. Methods: Neonates were adequately breastfected 72 h after birth and plunged 3 drops into the filter paper. Fluorescence was used to determine the content of Phe. Phe≥2.0 mg / dl for screening positive, after the recall is still greater than the cut-off value were confirmed, and identified with tetrahydrobiopterin deficiency. Children diagnosed with low-phenylalanine diet, long-term supervision and follow-up. Results: The screening coverage increased from 29.25% in 2009 to 94.31% in 2012. A total of 108,308 newborns were screened in 4 years and 23 cases were diagnosed with PKU, the incidence was 2.12 / million. Twelve patients were treated, eight were given up, and three died. Long-term adherence to low phenylalanine diet treatment of children in 9 cases, normal intelligence development. Conclusion: The incidence of neonatal PKU in Tianshui area is higher than the national average. Early diagnosis and treatment can prevent and reduce the mental retardation in children. The family economic income, parents’ attitude and the degree of cooperation and treatment directly affect the therapeutic effect of children.