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【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 de-ficiency,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。
【Objective】 To investigate the follow-up and prognosis of patients with hyperphenylalaminemia (HPA). 【Methods】 One hundred and sixty-six patients diagnosed and treated in our hospital were retrospectively analyzed. 【Results】 1) Among 1 066 cases of HPA, a total of 1 016 cases were phenylalanine hydroxylase deficiency, ie, classic phenylketonuria (PKU) and 50 cases of tetrahydrobiopterin Depression (tetrahydrobiopterin de-ficiency, BH4D). Of these PKU patients, 369 (34.62%) were diagnosed at neonatal screening and started regular therapy within 3 months, 241 (22.61%) were diagnosed within 3 to 12 months of life, 456 cases (42.78%) were diagnosed after 1 year of age. 2) The mental development of children who were screened within 3 months was significantly higher than that of non-screening children (96 ± 15,69 ± 11; t = 14.19, P <0.01). 3) After 3 months, the level of intelligence after treatment was also significantly improved (46 ± 15,69 ± 11, t = 7.13, P <0.05). 4) Hydrogen proton magnetic resonance spectroscopy (1HMRS) detection of 22 cases of HPA children with phenylalanine (Phe) concentration showed that children with blood Phe concentration and IQ were negative correlation (r = 0.505, r Brain = 0.647, P <0.01). 【Conclusion】 All patients with HPA should be differentiated, diagnosed and treated as soon as possible. Controlling blood and brain phenylalanine concentration is an effective measure to reduce the intelligent backwardness.