微量荧光法在苯丙酮尿症诊治中的应用  

Application of Tracer Fluorimetry in Diagnosis and Treatment of Phenylketonurea

作　　者：简永建 马英杰[1] 马志军[1] 胡锦春[1] 李艳霞[1] 卢丽红[1] 

机构地区：[1]北京市儿童保健所,北京100045

出　　处：《实用医技杂志》2002年第4期245-247,共3页Journal of Practical Medical Techniques

摘　　要：目的 :探讨微量荧光法定量苯丙氨酸在苯丙酮尿症 (PKU)诊治中的应用。方法 :对芬兰 L absystem s公司生产的新生儿苯丙氨酸定量试剂盒及设备进行方法学鉴定 ,并测定 194 7例新生儿和 2 8例经典苯丙酮尿症患儿及 8例持续性高苯丙氨酸血症患儿末梢血中苯丙氨酸 (Phe)水平观察其实用性。结果 :经实验方法学鉴定 ,本法高、中、低各浓度批内平均变异系数 (CV)为0 .0 36 ,0 .0 6 9,0 .0 6 8,批间平均变异系数 (CV)为 0 .12 4 ;最低检测极限为 31μmol/ L ;平均重现率为 98.4 %。新生儿血苯丙氨酸水平正常参考范围 :31～ 12 0 μmol/ L。 2 8例经典苯丙酮尿症和 8例持续性高苯丙氨酸血症患儿血苯丙氨酸平均含量分别为 186 7μmol/ L(s=4 0 9.8)和 76 9μmol/ L(s=2 2 6 .2 ) ,三者间有显著性差异 P<0 .0 0 1。患儿治疗前后苯丙氨酸平均含量有明显差异 P<0 .0 0 1。结论 :微量荧光法定量准确操作简便适于This study discusses the application of tracer fluorimetry in the diagnosis and treatment of phenylketonurea(PKU)by detecting phenylalanine (Phe) content in the blood of newborns. A methodological evaluation was made to test Labsystems Kit and Apparatus for quantitative analysis of Phe content, and the Phe level of peripheral blood was determined in 1947 newborns (>3 days old), 28 typical PKU children and 8 children with prolonged hyperphenylalaninemia. According to the experimental evaluation, the average in batch coefficient of variation (CV) in high, medium and low concentrations was 0.036, 0.069, 0.068 respectively; the mutually compared average CV in high, medium and low concentrations was 0.124; the minimum limit of the fluorimetry was 31 μmol/L; and the mean recurrence rate was 98.4 %. Normally, the reference values of Phe content in the blood of newborns range from 31 to 120 μmol/L, but the average Phe content in the 28 typical PKU children and 8 children with prolonged hyperphenylalaninemia was 1 867 μmol/L(s=409.8) and 769 μmol/L(s=226.2)respectively, showing a statistically significant difference(P<0.001)between the normal group, PKU group, and hyperphenylalaninemia group. The difference of the Phe content of the children among before and after treatment was very significantly statistically(P<0.001). In conclusion, tracer fluorimetry is accurate and convenient, so it is recommendable to be used for screening PKU.

关 键 词：微量荧光法 苯丙酮尿症 PKU 苯丙氨酸 PHE 论断 治疗 儿童 血 

分 类 号：R589[医药卫生—内分泌]