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南昌地区新生儿肾上腺皮质增生症的筛查结果分析 被引量:4

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摘要 目的总结南昌地区新生儿先天性肾上腺皮质增生症(CAH)的筛查结果及发病率。方法选择2011年7月~2013年7月在我院出生的新生儿27988例作为筛查对象,采集出生后72h后的新生儿足跟血3滴于滤纸血片上,采用时间分辨荧光法检测血斑中17—α-羟孕酮(17-α—OHP)的浓度;可疑阳性召回复查确诊;确诊为CAH的患儿给予规范治疗。结果筛查新生儿27988例,可疑患儿448例,确诊2例,发病率为1/13994。结论南昌地区CAH的发病率为1/13994。开展新生儿CAH筛查可以早期诊断和治疗,对降低肾上腺危象的发生率及病死率有积极的意义,值得在我省推广该病的筛查。
出处 《中国优生与遗传杂志》 2014年第2期87-87,5,共2页 Chinese Journal of Birth Health & Heredity
基金 江西省卫生厅科技计划 (合同编号:20091237)
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