潍坊地区新生儿先天性肾上腺皮质增生症的筛查结果分析.docVIP

精品论文 参考文献 潍坊地区新生儿先天性肾上腺皮质增生症的筛查结果分析 山东省潍坊市妇幼保健院 山东 潍坊261011 作者简介：鹿相花 女，43岁。山东省潍坊市妇幼保健院。医学硕士，主治医师。内科学内分泌与代谢性疾病。 摘要：目的 探讨潍坊地区新生儿先天性肾上腺皮质增生症(CAH)的发生率及筛查指标的切值。方法 选择2012年9月～2016年3月潍坊市辖区内所有具备助产技术服务资质的医疗保健机构出生的289888例活产新生儿为筛查对象，检测滤纸干血片中17alpha;-羟孕酮(17alpha;-OHP)水平，对于可疑新生儿召回复测，对复查阳性者综合考虑确定是否诊断 CAH。比较正常新生儿及CAH患儿不同孕周、不同体重分组的干血片17alpha;-OHP水平。结果 本研究共筛查289888例新生儿，4443例新生儿疑似CAH，召回3488例，确诊19例，其中男15例，女4例，所有女婴均有外生殖器畸形；17例为失盐型、2例为单纯男性化型。CAH组内，依据孕周le;32周、33-34周、35-36周、37-38周，体重le;1500 g、1500-2500 g、ge;2500 g的顺序，滤纸干血片17alpha;-OHP水平均依次降低（t=3.95~21.07，P＜0.05或0.01）。CAH组各孕周、各体重组患儿滤纸干血片17alpha;-OHP水平均显著高于正常组新生儿水平（t=9.67~29.55，P＜0.01）。以所有受检新生儿为统计样本量，滤纸干血片17alpha;-OHP水平符合正态分布，取95%置信区间，测算得到滤纸干血片17alpha;-OHP水平诊断CAH的切值为30 nmol /L。结论 潍坊地区的CAH发病率约为1∶15257，其中低孕周、低出生体重新生儿罹患CAH的比例较高，本地区诊断新生儿CAH的滤纸干血片17alpha;-OHP切值为30 nmol /L，但这还有待更大样本量和临床实践的检验。 关键词：新生儿；先天性肾上腺皮质增生症；发病率；潍坊 【中图分类号】R816.9【文献标识码】A【文章编号】1001-5213(2016)09-0007-01 Abstract: objective to explore the weifang area of neonatal congenital adrenal cortex hyperplasia (CAH) incidence and cut the value of screening index. Methods in September 2012 to March 2016 in weifang jurisdiction all possess the skills of midwifery services qualification of medical and health institutions was born in 289888 cases of live births for newborn screening object, dried blood detection filter in 17 alpha hydroxyprogesterone (17 alpha OHP) level, for suspicious on neonatal recall reiteration, to review CAH was taken into account to determine whether the diagnosis. Compared to normal newborns and children with CAH grouping different gestational age, weight, 17 alpha OHP levels of dried blood. The results of this study, a total of 289888 cases of neonatal screening, 4443 cases of neonatal suspected CAH, recall of 3488 cases confirmed in 19 cases, including 15 cases were male, female 4 cases, all girls have genital malformation; 17 for the loss of salt, 2 cases of isolated masculine. CAH group, on the basis of gestational age 32 weeks or less, 33 and 34, 35 and 36