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目的研究西安市苯丙酮尿症儿童治疗、生存现状,为卫生行政部门提供决策依据。方法选取2002-2016年底在西安市妇幼保健院新生儿筛查分中心确诊和治疗随诊的全部苯丙酮尿症儿童为研究对象,回顾性分析其临床资料。结果需要治疗的苯丙酮尿症患儿中,家长明确表示放弃治疗23人(19.8%),在治疗过程中失访的患儿26人(22.4%),接受正规治疗患儿47人(40.5%),非正规治疗患儿20人(17.2%)。非正规治疗的患儿中智力正常者占22.3%,放弃的患儿随访到8人全部发育迟缓,正规治疗的患儿智力正常者达95.8%。随着患儿年龄的增加智力损害也呈加重趋势(χ~2=30.988,P<0.01),治疗依从性直接影响智力损害的程度(χ~2=83.720,P<0.01)。结论重视苯丙酮尿症儿童的生存质量,提供政策上的救助,从而提高患儿治疗依从性迫在眉睫。
Objective To study the treatment and survival status of children with phenylketonuria in Xi’an and provide decision-making basis for the health administrative department. Methods All children with phenylketonuria who were diagnosed and followed up at the Newborn Screening Center of Xi’an Maternal and Child Health Hospital from the end of 2002 to the end of 2016 were selected as the research objects and the clinical data were retrospectively analyzed. Results Among the children with phenylketonuria requiring treatment, 23 (19.8%) were given up for treatment, 26 (22.4%) were lost to treatment during the course of treatment, and 47 (40.5% ), Informal treatment of children 20 (17.2%). Non-formal treatment of children with normal intelligence accounted for 22.3%, abandoned children were followed up to all 8 people with developmental retardation, formal treatment of children with mental retardation reached 95.8%. Intelligence impairment also tended to increase with age (χ ~ 2 = 30.988, P <0.01). Treatment adherence directly affected the degree of mental impairment (χ ~ 2 = 83.720, P <0.01). Conclusions Emphasis on the quality of life of children with phenylketonuria, to provide policy assistance, thereby enhancing the treatment compliance of children is imminent.