Wang L, Lu L, Lu Z L, Chen S, Zhu H J, Pan H, Duan L, Yang H B, Wang L J, Yuan T, Li N S
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 (Wang Long is now working in the Department of Endocrine and Metabolic Diseases, the Third Affiliated Hospital of Soochow University, Changzhou 213000, China).
Zhonghua Yi Xue Za Zhi. 2020 Mar 31;100(12):915-921. doi: 10.3760/cma.j.cn112137-20191009-02178.
To summarize the etiology of primary adrenal insufficiency (PAI) and analyze its clinical features. 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. 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 0.05), and serum potassium and renin levels were higher in the autoimmune adrenalitis group (both 0.05). 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.
总结原发性肾上腺皮质功能减退症（PAI）的病因并分析其临床特征。对北京协和医院内分泌科1981年10月至2019年6月期间收治的患者进行回顾性分析。纳入以PAI为首发症状的患者。分析PAI的病因并总结其临床特征。共纳入131例PAI患者，其中男性87例，女性44例（青少年57例，成年人74例）。年龄范围为0至73岁。青少年PAI的主要病因是基因缺陷（52.6%，30/57），其中由DAX1基因缺陷引起的先天性肾上腺发育不良占50.0%（15/30），其次是自身免疫（22.8%，13/57）。成年PAI的主要病因是感染（58.1%，43/74），其中结核病占大多数（93.0%，40/43），自身免疫性肾上腺炎占19.0%（14/74）。与结核病组相比，自身免疫性肾上腺炎组女性患者更常见，发病年龄更小，血浆皮质醇、血清钠、空腹血糖、肌酐和醛固酮水平更低（均P<0.05），血清钾和肾素水平更高（均P<0.05）。在本研究中，成年组PAI由感染引起的比例高于青少年组。成年PAI最常见的病因是结核感染。儿童PAI最常见的病因是基因缺陷。肾上腺的自身免疫损伤可能比结核感染更严重。
