原发性肾上腺皮质功能减退症的病因构成及临床特点  

Etiology and clinical features of primary adrenal insufficiency

作　　者：王龙 卢琳[1] 陆召麟 陈适 朱惠娟 潘慧 段炼 阳洪波 王林杰 袁涛 李乃适 Wang Long;Lu Lin;Lu Zhaolin;Chen Shi;Zhu Huijuan;Pan Hui;Duan Lian;Yang Hongbo;Wang Linjie;Yuan Tao;Li Naishi(Department of Endocrinology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Key Laboratory of Endocrinology of National Health Commission,Beijing 100730,China;Department of Endocrine and Metabolic Diseases,the Third Affiliated Hospital of Soochow University,Changzhou 213000,China)

机构地区：[1]中国医学科学院北京协和医学院北京协和医院内分泌科国家卫生健康委员会内分泌重点实验室协和转化医学中心,北京100730 [2]苏州大学附属第三医院内分泌代谢科,常州213000

出　　处：《中华医学杂志》2020年第12期915-921,共7页National Medical Journal of China

基　　金：中国医学科学院中央级公益性科研院所基本业务费(2017PT32020,2018PT32001);中国医学科学院医学与健康科技创新工程项目(CAMS-2017-I2M-1-011);国家重点研发计划(2016YFC0901500)。

摘　　要：目的分析原发性肾上腺皮质功能减退症(PAI)的病因构成及不同类型的临床特点。方法回顾性分析北京协和医院内分泌科1981年10月至2019年6月以PAI为首发症状的病例资料,对病因进行分析并总结临床特点。结果共纳入PAI患者131例,年龄0~73岁,其中男87例,女44例;青少年起病57例,成年起病74例。青少年PAI的首要病因为基因缺陷,占52.6%(30/57),其中DAX1基因缺陷占50.0%(15/30);其次为自身免疫,占比为22.8%(13/57)。成年PAI的首要病因为感染,占58.1%(43/74),其中以肾上腺结核为主(93.0%,40/43);自身免疫占19.0%(14/74)。和结核组相比,自身免疫组患者女性更多见,起病年龄更小,血皮质醇、血钠、血糖、血肌酐和醛固酮的水平更低(均P<0.05),血钾、肾素水平更高(均P<0.05)。结论本组PAI病例成年组感染比例高于青少年组,成年PAI的最常见病因是肾上腺结核;基因缺陷是青少年PAI的最常见病因,DAX1基因缺陷占比最多。自身免疫性肾上腺炎较肾上腺结核对肾上腺皮质的功能影响更严重。Objective To summarize the etiology of primary adrenal insufficiency(PAI)and analyze its clinical features.Methods A retrospective analysis was performed in the Department of Endocrinology,Peking Union Medical College Hospital from October 1981 to June 2019.Patients with PAI as the first symptom were enrolled.The etiology of PAI was analyzed and the clinical characteristics was also summarized.Results A total of 131 patients with PAI were enrolled,including 87 males and 44 females(57 adolescents,and 74 adults).The age ranged from 0 to 73 years.The primary cause of PAI in adolescents was genetic defects(52.6%,30/57),in which congenital adrenal dysplasia caused by DAX1 gene deficiency accounted for 50.0%(15/30),followed by autoimmunity(22.8%,13/57).The primary cause of adult PAI was infection(58.1%,43/74),of which tuberculosis accounted for the majority(93.0%,40/43),and autoimmune adrenalitis accounted for 19.0%(14/74).Compared with the tuberculosis group,female patients were more common,and the onset age was younger,the plasma cortisol,serum sodium,fasting blood glucose,creatinine and aldosterone were lower(all P<0.05),and serum potassium and renin levels were higher in the autoimmune adrenalitis group(both P<0.05).Conclusions In the current study,the proportion of PAI caused by infection in the adult group was higher than that in the adolescent group.The most common cause of adult PAI was tuberculosis infection.The most common cause of childhood PAI was genetic defects.Autoimmune damage to the adrenal glands may be more severe than tuberculosis infection.

关 键 词：肾上腺功能减退 艾迪生病 结核 自身免疫 基因突变 

分 类 号：R5[医药卫生—内科学]