早期筛查诊断治疗的57例苯丙酮尿症患儿智力发育分析  

Analysis of mental development status and relevant factors on phenylketonuria children of Beijing.

作　　者：段建华[1] 张玉敏[1] 秦金莉[1] 裘蕾[1] 

机构地区：[1]首都医科大学附属北京妇产医院北京妇幼保健院,北京100006

出　　处：《中国儿童保健杂志》2006年第4期368-369,共2页Chinese Journal of Child Health Care

摘　　要：[目的]通过对北京地区10年间经新生儿疾病筛查并确诊的苯丙酮尿症（phenylketonuria,PKU）患儿智力发育做出现状调查,并就起始治疗时间,治疗浓度等与智力发育水平的关系进行分析,了解PKU新生儿疾病筛查和早期治疗对患儿疾病预后的影响,以便完善治疗方案.[方法]北京市1996年1月～2005年1月经新生儿疾病筛查确诊的苯丙酮尿症患儿57名,选用Gesell智力测查法评估患儿智力发育情况.[结果]90%以上经新生儿疾病筛查并确诊的早期开始治疗的PKU患儿智力达到正常水平.生后3个月内即开始治疗对智力发育水平无影响.确诊时Phe血浓度高低与预后无直接关系.治疗过程中Phe控制水平与预后呈负相关关系.[结论]苯丙酮尿症的治疗宜在患儿生后3个月内开始,严格控制Phe血浓度是改变疾病结局的关键因素.[Objectives] To study on the mental development status of children with phenylketonuria（PKU）, diagnosed through neonatal screening from Jan. 1996 to Jan. 2005, and with early treatment. The relationship between mental development status and starting phenylalanine（Phe） concentration and initial treatment were defected with the purpose to know the prognosis of early diagnosis and treatment children. [Method] Retrospective analysis of Gesell test was done in selected samples. [Results] Over 90% patients with early treatment obtained normal mental development. No detective affection could be found if initial treatment begins within 3 months after birth. There was not significant relativity between initial Phe concentration and prognosis. [Conclusion] Treatment for PKU children should begin at least within 3 months after birth. Strict dietary control is the key point for prognosis.

关 键 词：新生儿疾病筛查 苯丙酮尿症 苯丙氨酸 Gesell智力测查 

分 类 号：R722.1[医药卫生—儿科]