原发性双侧大结节性肾上腺增生1例报道并文献复习  

Primary bilateral macronodular adrenal hyperplasia:Report of one case with literature review

作　　者：何俊俊 孟祥健 王勇 姚新明 HE Junjun;MENG Xiangjian;WANG Yong;YAO Xinming(Department of Endocrinology,The First Affiliated Hospital of Wannan Medical College,Wuhu 241001,Anhui,China)

机构地区：[1]皖南医学院第一附属医院弋矶山医院内分泌科,安徽芜湖241001

出　　处：《皖南医学院学报》2025年第1期62-65,共4页Journal of Wannan Medical College

基　　金：安徽省自然科学基金项目(2308085MH252)。

摘　　要：目的:探讨原发性双侧大结节性肾上腺增生(PBMAH)的临床特征,提高临床医生对该疾病的临床认识,减少临床误诊及漏诊。方法:总结分析弋矶山医院诊治的1例PBMAH患者的临床资料并对文献进行复习。结果:该患者长期血压控制不佳,合并糖尿病、蛋白尿,存在长期误诊,此次因皮肤瘀点瘀斑明显入院,完善相关检查,对术后病理进行基因检测,明确诊断为PBMAH,伴有Armadillo重复蛋白5基因(ARMC5)基因突变。结论:PBMAH是一种罕见的库欣综合征,临床表现复杂多样,多数表现为亚临床库欣综合征,漏诊、误诊率高,临床医生在进行临床诊疗时,需仔细鉴别,有条件可完善基因检测。Objective:To investigate the clinical characteristics of primary bilateral macronodular adrenal hyperplasia(PBMAH),enhance the clinicians′understanding of this disorder,and reduce clinical misdiagnosis and missed diagnosis.Methods:The clinical data were analyzed in one case of PBMAH diagnosed and treated in our hospital and the relevant literatures were reviewed.Results:The patient had a long history of poor blood pressure control,complicated with diabetes and proteinuria,and had been misdiagnosed for a long time.Upon this admission,the patient presented with obvious petechiae and ecchymoses on the skin.After relevant examinations and genetic test on the postoperative pathology,the diagnosis was confirmed as PBMAH with ARMC5 gene mutation.Conclusion:PBMAH is a rare form of Cushing′s syndrome with complex and diverse clinical manifestations.Most cases present as subclinical Cushing′s syndrome,resulting in high rates of missed diagnosis and misdiagnosis.Clinicians need to carefully differentiate it during clinical diagnosis and treatment,and genetic testing should be considered if conditions permit.

关 键 词：原发性双侧大结节性肾上腺增生 Armadillo重复蛋白5基因 库欣综合征 基因检测 

分 类 号：R586[医药卫生—内分泌]