摘要
目的分析2013—2017年扬州地区新生儿先天性肾上腺皮质增生症(CAH)的筛查结果。方法采用时间分辨荧光免疫法,对全市88 829例新生儿采足跟血制成干滤纸血片,检测17羟孕酮(17-OHP)。对可疑CAH阳性患儿,召回复查并确诊。结果 88 829例新生儿中,CAH筛查阳性240例,召回238例,4例确诊CAH,发病率为1/22 207。4例确诊CAH的患儿均为失盐型21羟化酶缺乏症,均采用糖皮质激素治疗,随访一切正常。结论干滤纸血片测定17-OHP适用于大规模开展CAH筛查。
Objective To analyze 88 829 newborns screened for congenital adrenal hyperplasia（CAH）in Yangzhou area from 2013 to 2017.Methods The time-resolved fluorescence immunoassay was used to measure 17-hydroxyprogesterone（17-OHP）in dried-blood spot specimens on filter paper,which were collected from heel blood of 88 929 newborns.The suspected newborns with CAH were recalled to have further examination for making a definite diagnosis of CAH.Results Of 88 829 newborns,240 cases were suspected to have CAH,of whom 238 cases were recalled.Four cases were diagnosed finally as CAH with an incidence rate of was 1/22 207.Four infants with CAH were all with salt-deficient 21-hydroxylase deficiency,who were treated with glucocorticoid hydrocortisone and recovered to normal after treatment.Conclusion The measurement of 17-OHP by dry filter paper is suitable for the screening of CAH on a large scale.
作者
韦文莉
张坡
彭勃
韦华根
尹静
胡苏玮
WEI Wenli;ZHANG Po;PENG Bo(Medical Genetic Center,Yangzhou Hospital of Maternal and Child Health Care,Yangzhou 225002,CHINa)
出处
《江苏医药》
CAS
2018年第10期1115-1117,共3页
Jiangsu Medical Journal
