高苯丙氨酸血症1066例随访分析  

Retrospective study of 1066 cases in hyperphenylalaninemia in past 20 years

作　　者：李晓雯[1] 王琳[2] 沈明[2] 贺春[3] 周忠蜀[2] 王琨蒂[2] 杨凌[2] 喻唯民[3] 

机构地区：[1]卫生部中日友好医院营养科,北京100029 [2]卫生部中日友好医院儿科,北京100029 [3]卫生部中日友好医院临床医学研究所,北京100029

出　　处：《中国儿童保健杂志》2011年第6期521-523,共3页Chinese Journal of Child Health Care

基　　金：国家自然科学基金(30271372)

摘　　要：【目的】了解高苯丙氨酸血症（hyperphenylalaminemia,HPA）患者治疗随访及预后。【方法】对在本院诊断治疗的1 066例HPA的治疗随访结果进行回顾性分析。【结果】1）在1 066例HPA患儿中,共有1 016例为苯丙氨酸羟化酶缺乏症,即经典型苯丙酮尿症（phenylketonuria,PKU）,50例为四氢生物蝶呤缺乏症（tetrahydrobiopterin de-ficiency,BH4D）。在这些PKU患者中,有369例（34.62%）患儿在新生儿筛查时被确诊并在3个月内开始规律治疗,241例（22.61%）在生后3~12个月内确诊,456例（42.78%）在1岁后才确诊。2）3个月内筛查治疗的患儿智力发育明显高于非筛查确诊的患儿（96±15,69±11;t=14.19,P〈0.01）。3）3个月后才确诊的经治疗后智力水平也有明显提高（46±15,69±11,t=7.13,P〈0.05）。4）氢质子磁共振波谱（1HMRS）检测22例HPA患儿的脑苯丙氨酸（phenylalanine,Phe）浓度表明患儿血、脑Phe浓度与智商均呈负相关关系（r血=0.505,r脑=0.647,P〈0.01）。【结论】对所有HPA患者均应进行鉴别诊断,尽早确诊和治疗,控制血、脑苯丙氨酸浓度是减少智能落后的有效措施。【Objective】 To study on the prognosis of patients in hyperphenylalaminemia（HPA）.【Methods】 The neonatal screening,diagnosis and treatment starting time were considered in the follow-up study.The neuroimaging,MRI and 1HMRS were also performed in parts of these patients and the results were also considered as the index of prognosis.【Results】 1）Of 1 066 patients 1 016 cases were diagnosed as phenylketonuria（PKU） and of which 50 cases were diagnosed as BH4D.Among the patients in PKU,369（34.62%）were treated within 3 months after the neonatal screening,and 241（22.62%）,456（42.78%） were diagnosed and treated in 3~12 months and afterwards respectively.2）The DQ of the patients who were treated within 3 months after the neonatal screening were much higher than that of non-screening patients（96±15,69±11;t=14.19,P0.01）.3）The DQ of the patients who were treated later than 3 months were also highly improved after treatment（46±15 and 69±11,t=7.13,P0.05）.4）There was a negative correlation between blood-brain Phe concentration to the mental retardation rblood=-0.505,rbrain=-0.647,P0.01） in 22 cases of the HPA patients.【Conclusion】 The long-term outcome of these patients benefits from early diagnosis and treatment,and the strict control of phe concentrations can minimize the mental retardation in HPA patients.

关 键 词：高苯丙氨酸血症 苯丙酮尿症 新生儿筛查 饮食治疗 

分 类 号：R722.1[医药卫生—儿科]