新生儿苯丙酮尿症综合干预效果的初步评价

Initially envaluating of effect on integratively intervene phenylketouria of neonates

评价新生儿苯丙酮尿症(PKU)综合干预的效果,减少PKU患儿生后智力残疾的发生率,提高人口素质。方法:应用Guthrie细菌抑制法进行大样本初筛,对血苯丙氨酸(Phe)浓度高于2mg/dl者复采血片应用该法确诊病例;对确诊病例给以低苯丙氨酸饮食长期治疗,进行定期化验血液Phe浓度及体格检查和智力测试,对家长进行饮食治疗指导,根据化验结果随时调整饮食谱。同时给予免费保偿诊治6年。结果:1999年6月～2004年4月筛查284373例新生儿,确诊PKU41例,其中经典PKU32例,中度高Phe血症5例,四氢生物喋呤缺乏症(BH4D)4例。除了4例BH4D应用药物治疗外,对其他37例患儿采取了综合干预措施,治疗效果良好,体格及智力发育正常率97.30%。社会效益良好,家庭负担明显减轻。结论:对新生儿疾病筛查出的PKU患儿采取综合干预的方法使PKU患儿诊治率明显提高,治疗效果显著,有良好的社会、经济效益,并提高了出生人口素质。而新生儿疾病筛查实行保偿制度是保证综合干预效果良好的关键。

Objective:To carry through free integrative intervening measure to neonate patients of PKU for screening neonates,We analysed the effect on integrative intervening to of phenylketouria of neonates, to supply important reference for reducing the birthrate of PKU and the incidence of the defect after birth of neonates,and to improve the population quality. Methods: The initial screening of vast neonates' specimens was made by Guthrie bacteria inhibition.Those whose phenyla concentration that is higher than the cut-off( 2mg/dl) shoud be plucked again and be dignosed by the method .The patients would be given free long low Phenyla-nine diet to treatment;tassaying, physique and mentality checking in settled date;guiding for their parents; adjusting the cases' cookbook at any moment for 6 years . Results:41 patients of PKU were dignosed in the screening of 284 373 newborns in 1999.06~2004.10,among which typical type cases were 23,HPA cases were 14,the BH4D cases were 4.The screening rate is 99.99% and the incidence of phenylketouria of neonates is 1/6936 in Taian city.Besides the 4 BH4D cases to treatment with medicines, 36 cases(1 case died during neonate) were intervened with free integrative measures, and had a good effect.40 cases' receving rate to be treated and dignosed reached to and keeping on 100%,so was higher than the past clearly. The growth of 37 cases in both physique and mentality were normal(92.5%).DQ of 2 cases (5%) were 83,and their growth of physique were normal.DQ of 1 case (2.5%)was 65,and growth of physique were normal. The cure rate is 100%. Therefore,the social benefit was well ,the burden of their family was reduced directely too.Conclusion:The study showed that the screening and free integrative intervening measures of PKU in neonates had a good social value and reduced the burden of the patient's family, rised the rate of diagnosis and treatment to patient, thereby had a great value for improving the population quality because the result of integrative intervening measure for the patients of PKU had a good effect. The free treatment after screening of neonates is a key to ensure good effect on integrative intervening measures.