原发性双侧肾上腺大结节增生的临床特点及诊断方法探讨  

Clinical Characteristics and Diagnostic Approaches of Primary Bilateral Macronodular Adrenal Hyperplasia

作　　者：张倩[1] 张雷[2,3] 鹿鸣[4] 谷伟军 窦京涛[2] ZHANG Qian;ZHANG Lei;LU Ming;GU Weijun;DOU Jingtao(Department of Geriatric Diseases, the Seventh Medical Center of Chinese PLA General Hospital, Beijing 100700, China;Department of Endocrinology, the First Medical Center of Chinese PLA General Hospital, Beijing 100853, China;Health Team, No.61622 Troop, Chinese People’s Liberation Army, Beijing 102202, China;Outpatient Department of Haidian the 36th Retirement Center for Retired Veteran Cadres, Beijing 100191, China)

机构地区：[1]解放军总医院第七医学中心老年医学科,北京100700 [2]解放军总医院第一医学中心内分泌科,北京100853 [3]中国人民解放军61622部队卫生队,北京102202 [4]北京卫戍区海淀第三十六离职干部休养所门诊部,北京100191

出　　处：《标记免疫分析与临床》2021年第5期738-742,共5页Labeled Immunoassays and Clinical Medicine

基　　金：海南省自然科学基金青年基金项目《ARMC5基因突变阴性的非ACTH依赖性双侧肾上腺大结节增生发病机制研究》(编号:819QN374)。

摘　　要：目的旨在分析原发性双侧肾上腺大结节增生(PBMAH)的临床特征、探讨其诊断方法。方法回顾性分析59例PBMAH的临床资料,分析探讨临床表现、皮质醇分泌水平、影像学表现、基因检测结果等。结果(1)PBMAH患者男女发病比例相近,就诊年龄50~60岁之间,多因查体发现双侧肾上腺病变就诊;(2)典型的CS临床表现在患者中少见,多数患者CS的临床表现不典型;(3)8∶00 ACTH水平,23例<1.1 pmol/L,36例在1.1~3.6 pmol/L;8∶00皮质醇440.82(352.72~588.50)nmol/L、16∶00皮质醇326.56(240.26~549.07)nmol/L、0∶00皮质醇272.83(128.75~500.05)nmol/L;24h UFC 724.00(453.75~1659.43)nmol/24h;LDDST抑制前后及HDDST抑制前后的皮质醇水平变化P值均<0.05。(4)CT和(或)核磁显示双侧肾上腺弥漫性大结节样增生;(5)散发病例为主,还发现了两个罕见家系,且家系病例携带ARMC5基因突变。结论PBMAH患者皮质醇自主分泌程度较低,双侧肾上腺大结节增生样改变为诊断提供关键线索,地塞米松抑制试验为诊断提供重要依据,基因检测成为早期诊断家族潜在患病成员的可靠筛查手段。Objective To investigate the clinical features and diagnostic methods of primary bilateral macronadular adrenal Hyperplasia(PBMAH).Methods Clinical data of 59 cases of PBMAH were analyzed retrospectively,including the clinical manifestations,cortisol secretion level,imaging findings and genetic test results.Results(1)The incidence rate of PBMAH patients was similar between men and women.The age of patients was between 50-60 years old and most patients were diagnosed by accidental discovery of bilateral adrenal mass;(2)The typical clinical manifestations of CS were rare in patients and the clinical manifestations of CS in most patients were atypical;(3)For the 8∶00 ACTH level,23 cases were<1.1pmol/L,36 cases were between 1.1pmol/L and 3.6pmol/L;8∶00 cortisol 440.82(352.72-588.50)pmol/L,16∶00 cortisol 326.56(240.26-549.07)nmol/L,0∶00 cortisol 272.83(128.75-500.05)nmol/L and 24hUFC 724.00(453.75-1659.43)nmol/24h;the changes of cortisol levels before and after LDDST and HDDST were all significant(P<0.05).(4)Imaging findings were diffuse bilateral macronadular adrenal Hyperplasia;(5)Sporadic cases were dominant,while two rare pedidrees were found,and the family cases carried ARMC5 gene mutation.Conclusion Autonomous cortisol secretion is relatively mild in PBMAH.The changes of bilateral macronodular adrenal Hyperplasia can provide a key clue for the diagnosis,and dexamethasone inhibition test provides an important reference for the diagnosis.Genetic detection is a reliable screening method for the early diagnosis of potential family members.

关 键 词：肾上腺 库欣综合征 原发性双侧肾上腺大结节增生 自主皮质醇分泌 

分 类 号：R586.2[医药卫生—内分泌]