国产特殊奶方治疗36例苯丙酮尿症患儿疗效观察  

CLINICAL RESULTS OF PKU TREATED WITH LOCAL-MADE FORMULA

作　　者：叶军[1] 黄晓东[1] 沈永年[1] 张雅芬[1] 张美华[1] 周建德[1] 杜玉华[1] 潘星时[1] 陈瑞冠[1] 

机构地区：[1]上海市儿科医学研究所,上海第二医科大学附属新华医院儿保科

出　　处：《中华医学遗传学杂志》1994年第4期214-217,共4页Chinese Journal of Medical Genetics

摘　　要：３６例经新生儿苯丙酮尿症（ＰＫＵ）筛查阳性患儿在生后２个月内开始治疗，１８例先由进口低苯丙氨酸奶方治疗后转用国产奶方治疗；另１８例全程用国产＂苯酮安＂奶方治疗。结果显示国产奶方治疗后４天左右血苯丙氨酸（ｐｈｅ）浓度降至６００μｍｏｌ／Ｌ以下；于４．７±２．４岁（０．５～１０岁）随访时，他们的体格发育正常，５３．３％智商正常，提示国产奶方疗效满意。Thirty-six cases of phenylketonuria patients identified by a neonatal screening program were started to receive the treatment within 2 months after birth. Of them,18(born before 1987) were given imported low-phenylalanine diet,but the treatment was switched to local-made formula in 1987;the rest of PKUs(born after 1987) were treated with local-made low-phe diet in their whole course.The blood phenylalanine concentration dropped below 600 μmol/L after 4 days exclusive use of 'Pantonin'.In the latest visit at 4.7±2.4 years old(0.5-10 yrs old),the babies'physical developments were normal. The mean intelligence quotient was within the norms of general population in 16 out of 30 cases(53.3%) and was moderate to severe degrees of abnormality in 14 out of 30 cases(46.7%).In daily social life,28 out of 36 cases(78%) responded actively.The clinical results of 'Pantonin' were satisfactory.

关 键 词：苯丙氨酸 饮食疗法 苯酮尿 奶方 

分 类 号：R725.893[医药卫生—儿科]