东营市新生儿先天性肾上腺皮质增生症筛查与基因检测分析  

Screening and genetic analysis of newborns with congenital adrenal cortex disease in Dongying city

作　　者：任玉宝 巩霞 张云霞 马晓莹 王长勇 REN Yubao;GONG Xia;ZHANG Yunxia;MA Xiaoying;WANG Changyong(Newborn Screening Center of Dongying Maternal and Child Health Care Hospital,Dongying,Shandong 257091,China;Dongying Public Health Department of Maternal and Child Health Care Hospital,Dongying,Shandong 257091,China)

机构地区：[1]东营市妇幼保健院新生儿疾病筛查中心,山东东营257091 [2]东营市妇幼保健院公共卫生科,山东东营257091

出　　处：《中国优生与遗传杂志》2024年第1期153-156,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的了解东营市先天性肾上腺皮质增生症的发病率与基因突变特点。方法选择2015年1月至2022年12月期间在东营市所辖三区两县及胜利油田内的所有助产机构出生的204655例新生儿为研究对象,采用时间分辨荧光法检测17α-羟孕酮,对可疑患儿召回复查,对召回阳性患儿结合相关临床表现及辅助检测进行临床确诊,同时采用Sanger测序联合MLPA技术对患儿21-羟化酶基因进行检测,确定基因型。结果2015年1月至2022年12月期间,东营市妇幼保健院新生儿疾病筛查中心共筛查204655名新生儿中,筛查阳性1678例,确诊17例,确诊年龄6~28 d,发病率1/12039。C.293-13A/C>G是东营市的热点变异,发生率为25%。结论新生儿疾病筛查可以实现先天性肾上腺皮质增生症患儿的早期诊断,进而预防肾上腺皮质危象的发生,以免患儿生命受到威胁,改善患儿预后。Objective The aim of this study was to investigate the prevalence and genetic mutations of congenital adrenal hyperplasia in Dongying city.Methods A total of 204655 newborns born in all midwifery institutions in three districts and two counties of Dongying city from January 2015 to December 2022 were included in the study.Time-resolved fluoroimmunoassay was used to detect the level of 17α-hydroxyprogesterone,and the suspicious children were then recalled for review.The recalled children were further clinically diagnosed according to relevant clinical manifestations combined with auxiliary detection.Meanwhile,Sanger sequencing combined with MLPA technology were used to detect the 21-hydroxylase gene of the children to determine the genotype.Results From January 2015 to December 2022,a total of 204655 newborns were screened in Newborn Screening Center of Dongying of Dongying Maternal and Child Health Care Hospital,of which 1678 were positive,and 17 were confirmed.The diagnosed infants were aged from 6 to 28 days,with an incidence rate of 1/12039.C.293-13A/C>G is a hot-spot variant in this region with an incidence of 25%.Conclusion Neonatal disease screening can diagnose children with congenital adrenal hyperplasia early,prevent the occurrence of life-threatening adrenal crisis,and significantly improve the prognosis of children.

关 键 词：新生儿疾病筛查 先天性肾上腺皮质增生症 基因检测 

分 类 号：R722.1[医药卫生—儿科] R440[医药卫生—临床医学]