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目的分析新生儿苯丙酮尿症(phenylktonuria,PKU)筛查实验结果与鉴别诊断实验结果的关系与差异,为PKU临床分型和治疗提供依据。方法 865 572例新生儿,采用荧光分析法测定血苯丙氨酸(phenylalanine,phe)水平,原始标本连续2次phe≥120μmol/L可疑阳性者进行复查,phe仍≥120μmol/L者诊断为高苯丙氨酸血症(hyperphenylalaninemia,HPA)。对初筛实验确诊HPA患儿采用基因突变分析法、四氢生物蝶呤(tetrahydrobiopterin,BH4)负荷试验及尿蝶呤谱分析法等进行鉴别诊断。结果初筛可疑阳性438例,复查诊断为HPA 131例;131例HPA患儿中120例行鉴别诊断,确诊经典型PKU 111例,BH4D缺乏症7例,致病基因携带者(杂合子)2例。结论初筛可疑阳性PKU患儿必须进行复查,确诊HPA者需尽早行鉴别诊断实验,以明确分型,尽早采取治疗措施。
Objective To analyze the relationship between neonatal phenylketonuria (PKU) screening test results and differential diagnosis results, and to provide basis for the clinical classification and treatment of PKU. Methods 865 572 newborns were enrolled. The levels of phenylalanine (phe) were determined by fluorescence analysis. The suspicious patients with phe≥120 μmol / L in the original specimen were examined twice, and those with phe≥120 μmol / L were diagnosed as high Hyperphenylalaninemia (HPA). The diagnosis of initial diagnosis of HPA in children with gene mutation analysis, tetrahydrobiopterin (tetrahydrobiopterin (BH4) load test and urinary pteridine spectrum analysis of differential diagnosis. Results There were 438 suspicious positives in the preliminary screen, 131 cases were diagnosed as HPA by primary screening, 120 cases were diagnosed by HPD in 111 cases of HPA, 111 cases were diagnosed as classic PKU, 7 cases were BH4D deficiency, 2 carriers were heterozygous example. Conclusion The preliminary screening of suspected positive PKU children must be reviewed, the diagnosis of HPA need differential diagnosis as early as possible to clear the type, as soon as possible to take treatment.