高苯丙氨酸血症1 066例随访分析

【目的】 了解高苯丙氨酸血症(hyperphenylalaminemia, HPA)患者治疗随访及预后。 【方法】 对在本院诊断治疗的1 066例HPA的治疗随访结果进行回顾性分析。 【结果】 1)在1 066例HPA患儿中,共有1 016例为苯丙氨酸羟化酶缺乏症,即经典型苯丙酮尿症(phenylketonuria, PKU),50例为四氢生物蝶呤缺乏症(tetrahydrobiopterin deficiency, BH₄D)。在这些PKU患者中,有369例(34.62%)患儿在新生儿筛查时被确诊并在3个月内开始规律治疗,241例(22.61%)在生后3～12个月内确诊, 456例(42.78%)在1岁后才确诊。2)3个月内筛查治疗的患儿智力发育明显高于非筛查确诊的患儿(96±15, 69±11;t=14.19,P＜0.01﹚。3)3个月后才确诊的经治疗后智力水平也有明显提高﹙46±15,69±11,t=7.13,P＜0.05﹚。4)氢质子磁共振波谱(¹HMRS)检测22例HPA患儿的脑苯丙氨酸(phenylalanine, Phe)浓度表明患儿血、脑Phe浓度与智商均呈负相关关系(r_血=0.505,r_脑=0.647,P<0.01)。 【结论】 对所有HPA患者均应进行鉴别诊断,尽早确诊和治疗, 控制血、脑苯丙氨酸浓度是减少智能落后的有效措施。

Retrospective study of 1066 cases in hyperphenylalaninemia in past 20 years

【Objective】 To study on the prognosis of patients in hyperphenylalaminemia(HPA).【Methods】 The neonatal screening,diagnosis and treatment starting time were considered in the follow-up study.The neuroimaging,MRI and 1HMRS were also performed in parts of these patients and the results were also considered as the index of prognosis.【Results】 1)Of 1 066 patients 1 016 cases were diagnosed as phenylketonuria(PKU) and of which 50 cases were diagnosed as BH4D.Among the patients in PKU,369(34.62%)were treated within 3 months after the neonatal screening,and 241(22.62%),456(42.78%) were diagnosed and treated in 3~12 months and afterwards respectively.2)The DQ of the patients who were treated within 3 months after the neonatal screening were much higher than that of non-screening patients(96±15,69±11;t=14.19,P<0.01).3)The DQ of the patients who were treated later than 3 months were also highly improved after treatment(46±15 and 69±11,t=7.13,P<0.05).4)There was a negative correlation between blood-brain Phe concentration to the mental retardation rblood=-0.505,rbrain=-0.647,P<0.01) in 22 cases of the HPA patients.【Conclusion】 The long-term outcome of these patients benefits from early diagnosis and treatment,and the strict control of phe concentrations can minimize the mental retardation in HPA patients.