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目的了解江苏省泰州市2002-2012年苯丙酮尿症的治疗和随访情况并进行分析。方法对2002-2012年在泰州市妇幼保健所确诊治疗的15例苯丙酮尿症(PKU)患儿进行饮食指导、定期体格发育检查、苯丙氨酸(Phe)测定和诊断性智能测试。结果 15例PKU患儿中,1例为恶性PKU,体格发育和神经心理发育均有异常,1例智商异常,6例智商为中下,其余7例体格发育和智能发育均为正常。结论 PKU的预后与疾病类型、治疗时间的早晚、患儿和家长的依从性有关。
Objective To understand and analyze the treatment and follow-up of phenylketonuria from 2002 to 2012 in Taizhou City, Jiangsu Province. Methods Dietary guidance, regular physical examination, phenylalanine (Phe) test and diagnostic intelligence test were performed on 15 children with PKU diagnosed and treated in Taizhou MCH from 2002 to 2012. Results Of the 15 children with PKU, 1 had malignant PKU, and had abnormal physical development and neuropsychological development. One patient had IQ abnormality, 6 patients had middle-lower IQ, and the other 7 patients had normal physical development and intelligence development. Conclusion The prognosis of PKU is related to the type of disease, the time of treatment, the compliance of children and parents.