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中文摘要: 目的 探讨张掖市2010—2016年新生儿代谢性疾病筛查和防治现状。方法 依据卫生部《新生儿疾病筛查技术规范》对张掖市妇幼保健院2010年9月30日—2016年10月1日产科新生儿实施疾病筛查，主要筛查项目为苯丙酮尿症（phenylketonuria,PKU)和先天性甲状腺功能减低症（congenital，hypothyroidism，CH）浓度。结果 本次研究共筛选79249例新生儿参与IMD疾病筛查，PHE阳性率为1.60％、复查率为78.91％；CH阳性率为0.49％、复查率为69.15％；79249例新生儿经过筛查确诊PKU 28例，确诊率：28/49249；确诊CH 15例，确诊率：15/49249。28列PKU确诊患儿中，经鉴别诊断确诊1例BH4缺乏症。确诊的28列PKU患儿在筛查中心接受治疗，治疗率96.15%。14例CH患儿得到较好的治疗，1例放弃治疗，其余2例患儿在随访中。GROWTH儿童体格发育测评：1例-2s，3例 -(1S~2S)，9例+1S，13例+(1S~2S)，2例+2S，无+2S以上患儿。经NDP儿童神经心理发育评价，发现1例中上智能、18例中等智能、5例中下智能、2例低智能。结论 通过筛查得出张掖市2010年-2016年新生儿代谢性疾病筛查具体情况，为疾病防治措施的制定提供科学的依据。
Abstract:Objective To investigate the status of screening and prevention of neonatal metabolic diseases in Zhangye from 2010 to 2016. Methods According to the Ministry of Health "neonatal disease screening technical specifications" on the Zhangye City Maternal and Child Health Hospital in January 2010 - August 2016 August obstetric neonatal screening, the main screening project for phenylketonuria (phenylketonuria, PKU ) And congenital hypothyroidism (CH) concentrations. Results A total of 79249 newborns were screened for IMD disease screening. The positive rate of PHE was 1.60% and the rate of review was 78.91%. The positive rate of CH was 0.49% and 69.15% in 79249 cases. 79249 neonates were screened Diagnosis of PKU in 28 cases, the diagnosis rate: 28/49249; confirmed CH 15 cases, the diagnosis rate: 15 / 49249.28 PKU diagnosed in children, the differential diagnosis confirmed 1 case of BH4 deficiency. The diagnosis of 28 children with PKU in the screening center for treatment, the treatment rate of 96.15%. 14 cases of CH children with better treatment, 1 case to give up treatment, the remaining 2 cases of children in the follow-up. Patients who were treated and followed up were tested by the Gesell Development Scale, and their intelligence and physical development were at the same level of healthy age. Conclusion Screening the specific situation of neonatal metabolic diseases screening in Zhangye from 2010 to 2016, and provide scientific basis for the development of disease prevention and control measures.
文章编号：3201802011 中图分类号：R1-9 文献标志码：
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