苯丙酮尿症患儿特殊奶粉免费补助效果初步分析

Preliminary analysis of effect of free special milk powder for the children with phenylketonuria

目的:探索解决PKU新生儿治疗费用的最佳途径及PKU治疗和管理的模式,评价免费治疗补助的干预效果,为全国范围的推广应用提供科学的依据。方法:200名患儿接受免费特殊奶粉补助,随访患儿的体格和智力发育情况,随访检测患儿血液苯丙氨酸(Phenylalanine,简写为Phe)浓度;开展新筛健康教育,设置PKU患儿募集和特殊奶粉补助流程,规范管理。结果:体格发育正常的补助患儿占检查人数中99.45%,智力发育正常的补助患儿占检查人数中95.97%;患儿血Phe浓度控制在4mg/dl以内的次数占总检测次数的比例能达到80%的人数仅占37.50%。结论:特殊奶粉免费补助能有效提高治疗依从性,但仍需要提高血Phe浓度控制在4mg/dl以内的次数占总检测次数的比例能达到80%的患儿比例。

Objective： To explore the best solution for therapeutic payment of the neonates with phenylketonuria （PKU） and the therapeutic and management pattern of PKU, evaluate the interventional effect of free therapy and subsidy, provide a scientific basis for nationwide popularization and application. Methods： A total of 200 children received free special milk powder, and the physical and intelligence development of the children were followed up, the concentration of phenylalanine in blood was detected during follow - up; health education about neonatal screening was conducted, the collection of children with PKU and special milk powder subsidy process were established, then standardized management was performed. Results： 99.45% of the children with normal physical development received free special milk powder, and 95.97% of the children with normal intelligence development received free special milk powder; 37. 50% of the children were found with the proportion of the times of blood phenylalanine concentration less than 4 mg/dl versus the total times of examination 〉80%. Conclusion： Free special milk powder subsidy can improve the compliance effectively, but the proportion of the times of blood phenylalanine concentration less than 4 mg/dl versus the total times of examination 〉 80% should be increased among the children.