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对严重危害身心健康的先天性或遗传代谢性疾病(新生儿先天性肾上腺皮质增生症(CAH))进行筛检,以便能早期诊断和治疗。目的探讨新生儿先天性肾上腺皮质增生症(CAH)筛查情况,为CAH的早期筛查、确诊和治疗提供依据。方法选择临沂市新生儿疾病筛查中心2009年8月至2013年12月进行CAH筛查的新生儿,采用时间分辨荧光免疫分析方法检测滤纸片17-羟孕酮(17-OHP)浓度,通过数据分析确立实验室筛查的切值。结果研究期间共筛查740 730例新生儿,确诊24例CAH。其中市区5例,县城19例。足月儿复查结果显示17-OHP浓度高于30 nmol/L。结论临沂地区CAH发病率低于全国平均水平,早期诊断对CAH患儿的临床治疗具有重要的意义。
Screening of congenital or hereditary metabolic diseases (Neonatal Congenital Adrenal Hyperplasia (CAH)), which is seriously endangering physical and mental health, can be screened for early diagnosis and treatment. Objective To investigate the screening of congenital adrenal hyperplasia (CAH) in neonates and provide evidence for the early screening, diagnosis and treatment of CAH. Methods Neonates with neonatal disease screening from January 2009 to December 2013 in Linyi were selected to detect the 17-hydroxyprogesterone (17-OHP) concentration by time-resolved fluorescence immunoassay Data analysis establishes the cut-off value for laboratory screening. Results A total of 740 730 newborns were screened during the study period, and 24 CAH were confirmed. Including 5 urban areas, 19 county. Full-term children review results show 17-OHP concentration higher than 30 nmol / L. Conclusions The incidence of CAH in Linyi is lower than the national average. Early diagnosis is of great significance to the clinical treatment of children with CAH.