2010年-2012年苏州地区新生儿先天性肾上腺皮质增生症筛查结果分析

Newborn screening for congenital adrenal hyperplasia in Suzhou,2010-2012

目的使先天性肾上腺皮质增生症患儿在新生儿期得到有效治疗,了解苏州地区先天性肾上腺皮质增生症的发病率。方法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足跟血17α-羟孕酮(17α-OHP)浓度,17α-OHP浓度大于等于切值,则重采血复查,复查值仍大于等于切值,则为疑似病例。疑似病例再测静脉血电解质、促肾上腺皮质激素、睾酮、孕酮、雌二醇进行确诊。结果 2010年9月至2012年11月共筛查南京医科大学附属苏州医院、太仓市、吴江市和昆山市新生儿96 423例,确诊先天性肾上腺皮质增生患儿5例,其中3例得到有效治疗。CAH患儿的17α-OHP水平明显高于正常新生儿的17α-OHP水平。春季和冬季新生儿17α-OHP平均水平明显高于夏季和秋季。春季、夏季、秋季和冬季新生儿17α-OHP水平的95%分位值和99%的分位值分别为(21.75,32.33),(13.31,22.50),(15.18,24.43)和(22.42,33.93)。结论 DELFIA检测17α-OHP水平能够及时筛查出失盐型和单纯男性化型患儿。苏州市新生儿CAH的发病率为1/19285。CAH筛查切值在夏季和秋季应该有所降低,而在春季和冬季应该有所提高。

Objective： To early and effectively treat the children with congenital adrenal hyperplasia （CAH） in neonatal period, and know the incidence of CAH in Suzhou area. Methods： In screening programmes, 17α - hydroxyprogesterone （ 17α - OHP） in dried blood spots obtained by a heel puncture preferably 72h after birth was measured using DELFIA. If 17α - OHP level was not lower than cut - off value, recall was needed. If the recall value was also not lower than cut - off value, the sample was defined as suspected case. Suspected eases were diagnosed by testing venous blood electrolytes, adrenocortietropic hormone, testosterone, progesterone, estradiol, combined with clinical symptorm. Results ： 96 423 newborns born in Nanjing Medical University Affiliated Suzhou Hospital, Taicang city, Wujiang city and Kunshan city were screened from 2010 to 2012. Five newborns were diagnosed with the CAH, and three in five were effectively treated. The 17α - OHP level of CAII newborns is significantly higher than that of normal newborns. The 17α - OHP levels of newborns in Winter and Spring were significantly higher than that in Summer and Autumn. The percentiles 95% and 99% of four seasons are respectively （21.75, 32. 33）, （ 13. 31, 22. 50）, （ 15.18, 24. 43） and （22. 42, 33.93 ）. Conclusions： Detecting 17α - OHP level by DELFIA can timely screen out newborns with CAH including salt wasting （SW） and simple virilizing （SV）. The CAH incidence of new- borns in Suzhou City is 1/19285. The cut -off level of 17c~ -OHP in Winter and Spring is suggested to be modified.