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目的分析宁夏新生儿先天性甲状腺功能减低症(CH)和苯丙酮尿症(PKU)的筛查和治疗情况。方法 2007年8月至2010年12月宁夏新生儿疾病筛查中心对新生儿采用时间分辨荧光免疫法测定促甲状腺素浓度,采用荧光免疫法测定苯丙氨酸浓度。回顾性分析CH和PKU检出率和治疗情况。结果 2007—2010年共筛查新生儿70491名,每年筛查的新生儿数分别为2154、9496、10841、47680名。共确诊CH17例,治疗13例,患病率0.24‰,治疗率76.5%;确诊PKU23例,治疗20例,患病率0.33‰,治疗率87.0%。结论宁夏新生儿疾病筛查工作近几年发展较快,筛查人数逐年增加,新生儿疾病筛查可使患儿得到早期诊治。
Objective To analyze the screening and treatment of neonatal congenital hypothyroidism (CH) and phenylketonuria (PKU) in Ningxia. Methods From August 2007 to December 2010, the neonatal screening center of neonates in Ningxia used the time-resolved fluorescence immunoassay to measure the concentration of thyroxine. The concentration of phenylalanine was determined by fluorescence immunoassay. Retrospective analysis of CH and PKU detection rate and treatment. Results A total of 70491 newborns were screened during 2007-2010. The number of newborns screened each year was 2154, 9496, 10841 and 47680 respectively. A total of 17 cases were diagnosed as CH, 13 cases were treated, the prevalence was 0.24 ‰, the treatment rate was 76.5%; 23 cases were confirmed PKU, 20 cases were treated, the prevalence was 0.33 ‰, and the treatment rate was 87.0%. Conclusion Ningxia Nephropathy screening has developed rapidly in recent years, the number of screening increased year by year, neonatal screening can enable children to get early diagnosis and treatment.