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目的总结和分析临沂地区新生儿高苯丙氨酸血症(hyperphenylalaninemia,HPA)的筛查和治疗情况。方法对1999年9月至2014年12月出生的2 123 193例新生儿进行苯丙氨酸(phenylalanine,Phe)浓度检测,应用气相色谱-质谱法以及其它生化检测,结合临床症状进行确诊。结果初筛可疑阳性3128例,初筛阳性率为0.15%,可疑阳性召回3039例,召回率为97.15%。共确诊HPA患儿304例,发病率为1/6984,男165例,女139例。其中PKU患儿292例,四氢生物蝶呤缺乏症(BH4)患儿12例。除8例患儿放弃治疗外,其余296例患儿治疗效果良好,治疗有效率100%。结论临沂地区新生儿高苯丙氨酸血症发病率为1/6984,高于全国平均水平。广泛宣传、规范治疗随访流程、提供免费治疗政策、强化家庭饮食指导是保证患儿治疗率和治疗效果的关键。
Objective To summarize and analyze the screening and treatment of neonatal hyperphenylalaninemia (HPA) in Linyi. Methods 2 123 193 newborns, born from September 1999 to December 2014, were tested for phenylalanine (Phe) concentration. Gas chromatography-mass spectrometry (GC-MS) and other biochemical tests were performed to confirm the clinical symptoms. Results There were 3128 suspicious positives in primary screening, the positive rate of primary screening was 0.15%, 3039 suspicious positive recalled, the recall rate was 97.15%. A total of 304 children diagnosed with HPA, the incidence was 1/6984, 165 males and 139 females. Among them, 292 patients with PKU and 12 patients with tetrahydrobiopterin deficiency (BH4). In addition to eight cases of children give up treatment, the remaining 296 cases of children with good treatment, the treatment efficiency of 100%. Conclusion The incidence of hyperphenylalaninemia in newborns in Linyi is 1/6984, higher than the national average. Extensive publicity, standardized treatment follow-up process, to provide free treatment policies, strengthen family diet guidance is to ensure that the treatment rate and treatment of children with the key.