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目的探讨新生儿先天性肾上腺皮质增生症(CAH)筛查情况,为CAH的早期筛查、确诊和治疗提供依据。方法选择柳州市新生儿疾病筛查中心2010年9月至2012年12月进行CAH筛查的新生儿,采用时间分辨荧光免疫分析方法检测滤纸片17-羟孕酮(17-OHP)浓度,通过数据分析确立实验室筛查的切值。结果研究期间共筛查46 592例新生儿,初筛阳性304例,确诊1例CAH。同一胎龄组中17-OHP浓度随体重增加而降低,同一体重组中早产儿17-OHP浓度大于足月儿,差异均有统计学意义(P<0.05)。3327例早产儿97.5th和99th分位数值分别为40.1 nmol/L和57.3 nmol/L,体重<2500 g早产儿切值定为40.0 nmol/L,体重≥2500 g定为30.0 nmol/L;足月儿中,体重<2500 g者97.5th和99th分位数值分别为20.9 nmol/L和27.5 nmol/L,体重2500~4000 g 97.5th和99th分位数值分别为16.8 nmol/L和21.1 nmol/L,但初筛17-OHP浓度分布显示99.8%的新生儿筛查结果分布在0.0~30.0 nmol/L,所以,足月儿无论体重大小17-OHP实验室筛查切值均定为30.0 nmol/L。结论确立17-OHP筛查切值,规范实验室管理,具有临床意义。
Objective To investigate the screening of congenital adrenal hyperplasia (CAH) in neonates and provide evidence for the early screening, diagnosis and treatment of CAH. Methods The neonates with CAH screening from September 2010 to December 2012 in Liuzhou Neonatal Disease Screening Center were selected. The concentrations of 17-OHP in the filter paper were determined by time-resolved fluorescence immunoassay. Data analysis establishes the cut-off value for laboratory screening. Results A total of 46 592 newborns were screened during the study period, 304 were positive for primary screening and 1 was diagnosed as CAH. The 17-OHP concentration in the same gestational age group decreased with body weight gain. The 17-OHP concentration in premature infants in the same body weight group was higher than that in term infants. The difference was statistically significant (P <0.05). The 33.5th and 99th quantiles of 3327 preterm infants were 40.1 nmol / L and 57.3 nmol / L respectively, the cut-off value of 40 2500 nmol / L for preterm infants weighing 2500 g and 30.0 nmol / L for body weight 2500 g, The monthly 97.5th and 99th quantile values for body weight <2500g were 20.9 nmol / L and 27.5 nmol / L, respectively, and the body weight was 2500-4000 g. The 97.5th and 99th quantiles were 16.8 nmol / L and 21.1 nmol / L, but the preliminary screening of 17-OHP concentration distribution showed that 99.8% of the newborn screening results distributed in 0.0 ~ 30.0 nmol / L, so full-term children regardless of body weight size 17-OHP laboratory screening cutoff value was set at 30.0 nmol / L. Conclusions The establishment of 17-OHP screening cut value, standardized laboratory management, with clinical significance.