苯丙酮尿症的临床研究（附120例临床分析）

Clinical study of phenyl ketonuria(PKU)120 cases analysis

苯丙酮尿症（ＰＫＵ）是最常见的先天性代谢病之一，从１９８４年１１月至１９９３年４月收治ＰＫＵ患儿１２０例，其中６１例用无苯丙氨酸（ＰＡ）奶粉和低ＰＡ奶粉加低ＰＡ饮食疗法为奶粉治疗组，５９例用单纯饮食疗法为非奶粉组，年龄分为０－１月、１－３月、３－６月、６－１岁，１－２岁、＞２岁。两组同时做智商和脑电图（ＥＥＧ），奶粉治疗组０－３组治疗者智商及ＥＥＧ均正常，３－６月智商在正常低限，＞６月者低于正常，但有少数坚持合理治疗者，智商有的达正常水平。说明对于ＰＫＵ患儿的早期诊断和早期治疗是十分必要的，两组疗效比较有显著差异（Ｐ＜０．０５），两组ＥＥＧ异常发生率分别为５２．４６％，６０．１％差异显著（ｔ＝３．１８７６６，Ｐ＜０．０１），对于６月以下患儿用特殊奶粉加低ＰＡ饮食大大低于单纯饮食疗法，强调用无或低ＰＡ奶粉治疗是防止智力低下，改善预后的重要手段。

PKU is one of the most common congenital metabolic diseases.We studied 120 cases in our hospital since Nov.1984 To April 1993.We divided the PKU patients into two groups:Group 1 were 61 cases Who had been treated with phenylanine-free(phe)special milk powder or low-pheplus low phe diet,59 cases fed by the restricted diet as contral(non-mp)group Ⅱ.Age ranges:0-3 months(m) 、6m-lyear(y)、>2y.IQ and EEG were examimed.The results showed:In group I IQ and EEG were normar at 0-3m.IQ were at the lowere normal range in 3-6m olds.While among>6m olds it was lower than normal range.Significant differenee (P<0.05)was found between group Ⅰ and group Ⅱ.The abnormal ratio of EEG in group Ⅰ and Ⅱ were 52.4%, 66.1% respectively(t=3.18761,P<0.01).We considered that earier diagnosis and treatment for PKU patients are necessary.Feeding with free or low phe milk powder plas low-phediet is an effective treatment.We stressed that it is the best way to prevnt mental retardation and improve the prognosis of PKU patients.