43例苯丙酮尿症患儿低苯丙氨酸饮食的监测分析  

The Monitor and Analysis on 43 Cases of PKU Low Phenylalanine Diet.

作　　者：张玉敏[1] 秦金莉[1] 裘蕾[1] 

机构地区：[1]北京市儿童保健所,北京100045

出　　处：《中国儿童保健杂志》2001年第1期5-6,9,共3页Chinese Journal of Child Health Care

摘　　要：【目的】　为提高苯丙酮尿症 (PKU)患儿的诊治水平 ,加强和改善患儿的治疗效果。　【方法】　对北京市 1993～ 1999年经过新生儿筛查确诊的 43例PKU患儿 ,低苯丙氨酸饮食的监测结果进行分析。　【结果】　 43例PKU患儿 ,除 4例放弃治疗、1例死亡之外 ,治疗的 3 8例患儿 ,有 2 8例智能发育达正常同龄儿水平 (73 .7% ) ,有 10例智能发育落后 (2 6.3 % )。生后 40天内即开始治疗的PKU患儿 ,智能发育均达正常。而家长主动配合治疗的 19例患儿中 ,18例智能发育正常 ,1例出现智能发育落后。　【结论】　患儿开始治疗时间的早晚及家长配合治疗程度直接影响患儿治疗效果。若患儿能在生后一个月内治疗 ,同时家长给予配合 。Objective To improve the diagnosis and curative effect for PKU children Methods To analyse result treated by low phenylalanine diet therapy in 43 cases of PKU children chosen with neonetal screening from 1993 to 1999 in Beijing. Results As for the 43 cases,except that 4 cases had given up treatment and one child died ,among the other 38 cases treated,28 children have reached the normal development quotient (DQ)(73.7%); 10 children fell behind in DQ(26.3%). Those children started to treat before 40 days after birth were normal DQ. In 19 children whose parents co operated with doctors actively and among them 18 children got normal DQ, only one child had low DQ. Conclusions The early beging of the treatment and the co operation from the parents have direct influence on the curative result of the PKU children. If the children could get the treatment within a month after birth and could get their parents active co operation,low DQ could be prevented.

关 键 词：新生儿筛查 苯丙酮尿症 苯丙氨酸 智能发育 

分 类 号：R722[医药卫生—儿科]