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目的了解柳州地区21-羟化酶缺乏症的发病率。方法新生儿出生72h后采集足跟血,滴于规定滤纸上,采用时间分辨荧光免疫分析方检测17-羟孕酮浓度。结果 2010年9月-2011年12月共筛查新生儿33 018例,确诊1例21-羟化酶缺乏症患者。给予及时治疗后目前生长发育良好。结论柳州地区21-羟化酶缺乏症发生率为1/33 018。开展新生儿21-羟化酶缺乏症筛查可以早期诊断和及时治疗患儿,对提高人口素质有积极的意义。
Objective To understand the incidence of 21-hydroxylase deficiency in Liuzhou area. Methods Heel blood was collected 72 hours after birth and dropped on the prescribed filter paper. The concentration of 17-hydroxyprogesterone was detected by time-resolved fluorescence immunoassay. Results From September 2010 to December 2011, 33 018 newborns were screened and 1 case of 21-hydroxylase deficiency was confirmed. Give timely treatment after the current good growth. Conclusion The incidence of 21-hydroxylase deficiency in Liuzhou is 1/33 018. To carry out neonatal 21-hydroxylase deficiency screening can early diagnosis and timely treatment of children, to improve the quality of the population has a positive meaning.