论文部分内容阅读
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 make children with congenital adrenal hyperplasia in neonatal period be effectively treated to understand the incidence of congenital adrenal hyperplasia in Suzhou. Methods Time-resolved fluorescence immunoassay was used to detect 17α-hydroxyprogesterone (17α-OHP) concentration in hematopoietic stem cells of neonatal filter paper. The concentration of 17α-OHP was greater than or equal to the cut-off value. Cut value, then the suspected cases. Suspected cases retest venous blood electrolytes, adrenocorticotropic hormone, testosterone, progesterone, estradiol were diagnosed. Results A total of 96 423 newborns from Suzhou Medical University, Taicang City, Wujiang City and Kunshan City were screened from September 2010 to November 2012. Five children with congenital adrenal hyperplasia were diagnosed, of which 3 were effective treatment. 17α-OHP levels in children with CAH were significantly higher than those in normal newborns. The average level of 17α-OHP in spring and winter newborns was significantly higher than that in summer and autumn. The 95% and 99% quantiles of 17α-OHP in newborns in spring, summer, autumn and winter were (21.75,32.33), (13.31,22.50), (15.18,24.43) and (22.42,33.93 ). Conclusion The detection of 17α-OHP by DELFIA can promptly screen salt-deficient and simple masculine children. The incidence of neonatal CAH in Suzhou City is 1/19285. CAH screening cutoffs should decrease in summer and fall, but should increase in spring and winter.