新疆苯丙酮尿症43例饮食治疗及康复治疗  

Dietary treatment and rehabilitation of 43 caes of PKU in Xinjiang.

作　　者：李明珠 王晓雯[2] 李龙 蒋海丽 任燕 孙岩[2] 阿依加马力 贺金峰 

机构地区：[1]新疆自治区人民医院新生儿筛查中心新生儿科,830001 [2]新疆自治区人民医院儿科,830001

出　　处：《中国优生与遗传杂志》2011年第7期122-124,共3页Chinese Journal of Birth Health & Heredity

基　　金：新疆自治区人民医院科研立项2008.002

摘　　要：目的探讨不同年龄苯丙酮尿症的饮食治疗及康复治疗的方法。方法对1998年4月～2009年12月确诊的43例PKU进行饮食治疗及康复训练,其中新筛患儿8例。漏筛患儿35例。经典型34例,BH4缺乏型1例。结果治疗期间用体格指数评价及Gesell发育量表测定智商。经新筛8例,早期发现并早期治疗后患儿身高、体质量和头围均在正常范围,智商为(91±12)分。漏筛患儿坚持治疗28例,其中10例治疗前Gesell发育量表测定智商平均(51±18)分,治疗12～18个月,智商平均(70±15)分,治疗前后智商比较差异显著(t=1.705 P<0.05)。结论进行新生儿筛查,早期诊断,早期饮食治疗是关键,开始治疗的年龄越小,预后越好,智商也越高。正确的指导,家长的配合是保证疗效的重要措施。Objective： To discuss dietary treatment and rehabilitation of phenylketonuria in different ages.Methods： Proceeded dietary treatment and rehabilitation training of 43 cases of PKU who were diagnosed from April 1998 to December 2009.8 cases of them were detected through newborn screening and 35 cases were avoided by newborn screening;34 cases of them were classical PKU and 1 case was HPABH4B.Results： Compared effort by body mass index and Gesell Development Scale during treatment.8 cases detected through newborn screening were diagnosed and treated early,and they revealed that their physical and mental development were normal,and height weight and head circumference were normal,and the results of I Q was（91 ± 12） scores.28 cases avoided by newborn screening persisted treatment and 10 of them judged by Gesell Development Scale.The score changed from（51 ± 18） scores to（70 ±15） scores during 12-18 months,and the difference was significant（t=1.705 P0.05）.Conclusion： To detecte through newborn screening,diagnose early and begin regular therapy timely is key point of treatment.If PKU is diagnosed and treated early enough,an affected newborn can grow up with normal brain development.Proper guidance by doctor and positive association from parents is important measure to ensure the treatment efficacy.

关 键 词：新生儿筛查 苯丙酮尿症 饮食治疗 康复治疗 

分 类 号：R722.1[医药卫生—儿科]