杨秋娥　罗裕旋　王霞　曾钊辉

【摘要】 目的：了解深圳市龙华区新生儿先天性肾上腺皮质增生症（congenital adrenocortcal hyperplasia，CAH）发病情况，为本区新生儿CAH诊断、治疗及防控提供参考依据。方法：选取2016年1月-2019年12月在深圳市龍华区妇幼保健院和深圳市龙华区人民医院产科分娩的活产新生儿35 683例，于出生72 h后采用新生儿滤纸干血片法采血，采用时间分辨荧光免疫分析法检测新生儿滤纸干血片上的血17-羟孕酮（17-OHP）浓度，对筛查阳性的新生儿召回并复查17-OHP浓度，对仍为阳性者测定血电解质、促肾上腺皮质激素（ACTH）、皮质醇及睾酮，并对检测结果进行统计分析。结果：2016-2019年参与CAH筛查32 660例，筛查率为91.53%;2016-2019年筛查率呈逐年上升趋势，且2018、2019年筛查率显著高于2016、2017年，差异有统计学意义（P<0.05）;2016-2019年初筛阳性121例，初筛阳性率为0.37%;召回复查115例，召回率为95.04%;35 683例确诊CAH 1例，确诊率为0.028‰。结论：深圳市龙华区新生儿CAH筛查率处于国内中等水平，并呈逐年上升趋势，且CAH发病率低。对新生儿进行CAH筛查有利于早诊断、早干预及早治疗，对避免或减轻智力和体格发育障碍、有效提高出生人口素质具有重要意义。

【关键词】 新生儿 先天性肾上腺皮质增生症 17-羟孕酮

doi：10.14033/j.cnki.cfmr.2020.18.062 文献标识码 B 文章编号 1674-6805（2020）18-0-03

Screening Results of Congenital Adrenocortical Hyperplasia in 35 683 Newborns in Longhua District of Shenzhen/YANG Qiue， LUO Yuxuan， WANG Xia， ZENG Zhaohui. //Chinese and Foreign Medical Research， 2020， 18（18）： -147

[Abstract] Objective： To investigate the incidence of congenital adrenocortcal hyperplasia （CAH） in 35 683 newborns in Longhua district of Shenzhen， and to provide a reference for the diagnosis， treatment， prevention and control of CAH in the newborns in this district. Method： From January 2016 to December 2019， 35 683 live newborns were delivered in the obstetrics department of Shenzhen Longhua District Maternal and Child Health Hospital and Shenzhen Longhua District Peoples Hospital. At 72 h after birth， the filter paper dried blood tablets were used for blood collection， and the concentration of 17-hydroxyprogesterone （17-OHP） on the filter paper dried blood tablets of newborns was detected by time-resolved fluorescence immunoassay. Newborns who were positive for screening were recalled and re-examined for 17-OHP concentration， and those who were still positive were tested for blood electrolytes， adrenocorticotropic hormone （ACTH）， cortisol and testosterone， and the detection results were statistically analyzed. Result： From 2016 to 2019， 32 660 newborns participated in CAH screening， and the screening rate was 91.53%. The screening rate showed an increasing trend year by year， and the screening rate in 2018 and 2019 were higher than those of 2016 and 2017， and the differences were statistically significant （P<0.05）. And 121 newborns were positive for primary screening， and the positive rate was 0.37%. And 115 newborns were recalled for re-examined， and the recall rate was 95.04%. Among the 35 683 newborns， 1 newborns of CAH was diagnosed， and the diagnosis rate was 0.028‰. Conclusion： The screening rate of CAH in newborns in Longhua district of Shenzhen is at the medium level in China， and shows an increasing trend year by year， and the incidence of CAH is low. CAH screening for newborns is conducive to early diagnosis， early intervention and early treatment， which is of great significance to avoid or reduce mental and physical development disorders and effectively improve the quality of the newborn population.

[Key words] Newborns Congenital adrenocortical hyperplasia 17-hydroxyprogesterone

First-authors address： Shenzhen Longhua District Maternal and Child Health Hospital， Shenzhen 518109， China

先天性肾上腺皮质增生症（congenital adrenocortcal hyperplasia，CAH）是因肾上腺皮质激素合成过程中某种或某些酶缺陷所引起的一种常染色体隐性遗传病，主要表现为肾上腺危象，严重威胁患儿健康，甚至引起死亡[1-3]。若能及早诊断并及时采取有效治疗措施可获得较好的临床效果[4]。因此，加强新生儿CAH疾病筛查并及时采取有效治疗对避免或减轻智力及体格发育障碍、提高我国人口出生素质具有重要意义。为此，本研究对2016-2019年深圳市龙华区35 683例新生儿进行CAH筛查，报道如下。

1 资料与方法

1.1 一般资料

选取2016年1月-2019年12月在深圳市龙华区妇幼保健院和深圳市龙华区人民医院产科分娩的活产新生儿35 683例。纳入标准：日龄1～8 d;活产新生儿。……