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目的探讨湖南省高苯丙氨酸血症(hyperphenylalaninemia,HPA)的患病与诊断治疗结果,以减少HPA引起的智力低下与致残。方法回顾分析湖南省1997-2006年间279 678例新生儿筛查资料,采用荧光法测定苯丙氨酸(phenylalanine,Phe)滤纸血片,Phe>120μmol/L则进行复查,复查仍阳性患者则行尿蝶呤分析,四氢生物蝶呤(tetrahydro-biopterin,BH4)负荷试验以及红细胞DHPR测定等以确诊HPA类型。根据HPA类型给予相应治疗并进行随访。结果检出HPA患儿14例,发病率1/19 977,明显低于全国平均水平1/11 144[1];其中苯丙氨酸羟化酶(phenylalanine hydrox-ylase,PAH)缺乏症10例,四氢生物蝶呤缺乏症(tetrahydrobiopterin deficiency,BH4D)4例,全部为6-丙酮酰四氢蝶呤合成酶(6-pyruvoyl tetrahydroptein synthase,PTPS)缺乏型,PAH缺乏症患儿经多样化低Phe饮食治疗,预后良好,智力达到正常同龄儿童水平;BH4D患儿中3例经药物治疗,基本未出现神经系统症状。结论新生儿HPA筛查对鉴别PAH缺乏症与BH4D极为重要,可有效减少HPA引起的智力低下。
Objective To investigate the prevalence and diagnosis and treatment of hyperphenylalaninemia (HPA) in Hunan Province in order to reduce the mental retardation and disability caused by HPA. Methods A retrospective analysis was conducted on 279 678 neonatal screening data from 1997 to 2006 in Hunan Province. Fluorescence method was used to detect the phenylalanine (Phe) filter paper blood film, and Phe> 120 μmol / L was used for reexamination. Urozine analysis, tetrahydro-biopterin (BH4) stress test, and erythrocyte DHPR assay were performed to confirm the HPA type. According to the type of HPA appropriate treatment and follow-up. Results 14 cases of children with HPA were detected, the incidence was 1/19 977, which was significantly lower than the national average of 1/11 144 [1]. Among them, 10 cases of phenylalanine hydroxypylase (PAH) deficiency , And 4 cases of tetrahydrobiopterin deficiency (BH4D), all of which were deficient in 6-pyruvoyl tetrahydroptein synthase (PTPS). The children with PAH deficiency were treated with low diversification Phe diet therapy, the prognosis is good, the intelligence reaches the normal level of children of the same age; 3 cases of BH4D children treated with drugs, the basic no neurological symptoms. Conclusion Neonatal HPA screening is very important for identifying PAH deficiency and BH4D, and can effectively reduce the mental retardation caused by HPA.