32例高苯丙氨酸血症鉴别诊断分析

Analysis of differential diagnosis of 32 cases with hyperphenylalaninemia

目的对32例新生儿高苯丙氨酸血症(hyperphenylalaninemia,HPA)进行鉴别分析。方法 2011年1月至2013年2月,四川省新生儿筛查中心共确诊32例HPA。通过尿蝶呤谱分析、红细胞二氢蝶啶还原酶测定、BH4负荷实验和串联质谱分析,进一步鉴别诊断。结果 32例HPA新生儿中,1例四氢生物蝶呤缺乏症,3例经典型苯丙酮尿症(classical phenylketouria,CPKU),15例轻度PKU,11例轻度HPA,1例枫糖尿病,1例希特林蛋白缺乏症。结论对所有HPA必须进行鉴别分析,尽早确诊和治疗。

Objective To analyze the differential diagnosis of 32 cases with hyperphenylalaninemia（HPA）. Methods From January,2011 to February,2013 ,a total of 32 patients with HPA were diagnosed in the Neonatal Screening Center in Sichuan Province. The differentiation diagnosis was further performed by using urinary pterin analysis, detection of dihydropteridine reductase （DHPR）ac- tivity in blood, and BH4 loading tests and LC-MS/-MS. Results Of the 32 patients, 1 case were diagnosed as BH4 deficiency（ BH4 D）, 3 cases were diagnosed as classical phenylketouria（ CPKU）, 15 cases were diagnosed as mild hyperphenylalaninemia（ MPKU）, 11 cases were diagnosed as HPA, I case were diagnosed as maple syrup urine disease（MSUD）and 1 case were diagnosed as neonatal intrahepat- ic cbolestasis caused by citrin deficiency（NICCD）. Conclusion The differential diagnosis should be carried out in all patients with HPA. The long-term outcome of these patients benefits from early diagnosis and treatment.