作　　者： (陈适）; (潘周娴）; (卢琳）; (童安莉）; (潘慧）; (朱惠娟）; (姚勇）; (冯铭）; (王任直）; (陆召麟）;

机构地区： 中国医学科学院北京协和医学院北京协和医院内分泌科卫生部内分泌重点实验室,100730

出　　处： 《中华医学杂志》 2017年第34期2674-2677,共4页

摘　　要： 目的 探讨青少年促肾上腺皮质激素（ACTH）依赖性库欣综合征患者的临床特点和定位诊断.方法 回顾性分析北京协和医院1990年1月至2012年3月35例青少年ACTH依赖性库欣综合征患者的临床表现、实验室检查和定位诊断方法.结果 35例患者中,29例为库欣病,6例为异位ACTH综合征（EAS）.和EAS患者相比,青少年库欣病患者就诊年龄更大[（15.2±2.7）岁比（12.8±4.4）岁],病程更长[（1.9±1.5）年比（0.7±0.3）年],血钾更高[（3.8±0.6）mmol/L比（2.5 ±0.7）mmol/L],血浆ACTH水平更低[（15.4±14.9）pmol/L比（42.5±22.7）pmol/L]（均P＜0.05）.采用地塞米松抑制试验（DST）服药后24 h尿游离皮质醇（UFC）和服药前的比值作为诊断指标,小剂量DST的临界值定为＜0.65时,诊断库欣病的敏感度为70.8％,特异度为100％.大剂量DST的临界值定为＜0.54时,诊断库欣病的敏感度为91.7％,特异度为100％.若以双侧岩下窦静脉取血（BIPSS）时岩下静脉和外周静脉血浆ACTH比值＞2为诊断标准,则8例行BIPSS的库欣病患者中仅有6例符合该诊断标准.结论 大剂量地塞米松抑制试验对青少年ACTH依赖性库欣综合征患者定位诊断意义较大. Objective To elucidate the clinical characteristics and localization diagnosis of patients with adrenocorticotropic hormone （ACTH）-dependent Cushing＇s syndrome （CS） in adolescence.Methods The clinical data,laboratory examination and localization diagnosis from 35 patients aged less than 18 years old with adolescent CS who were treated at Peking Union Medical College Hospital between January 1990 and March 2012 were analyzed.Results There were 29 cases of Cushing＇s disease （CD） and 6 cases of ectopic ACTH syndrome （EAS）.Compared to patients with EAS,those with CD were older at diagnosis[（15.2 ± 2.7） vs （12.8 ±4.4） years],and had longer disease course[（1.9±1.5） vs （0.7 ±0.3） years]and higher serum potassimn[（3.8 ±0.6） vs （2.5 ±0.7） mmol/L],however the plasma ACTH level[（15.4 ± 14.9） vs （42.5 ± 22.7） pmol/L] was lower （all P 〈 0.05）.If the cut-off of the ratio of 24-hour urine free cortisol （24 h UFC） after low-dose dexamethasone suppression test （LDDST） to before LDDST was 0.65,the sensibility to diagnose CD was 70.8%,and the specificity was 100%.If the cut-off of the 24 h UFC ratio after high-dose dexamethasone suppression test （HDDST） to before HDDST was 0.54,the sensibility to diagnose CD was 91.7%,and the specificity was 100%.If the cut-off of the plasma ACTH ratio of inferior petrosal vein[bilateral inferior petrosal sinus sampling （BIPSS）] to peripheral vein was 2,only 6 CD patients （6/8） met it.Conclusion The study suggested that HDDST was more meaningful in the localization diagnosis of patients with ACTH-dependent CS in adolescence.

关 键 词： 库欣综合征 青少年 体征和症状 诊断