自身免疫性多发内分泌腺病综合征2例并文献复习  

Autoimmune polyendocrinopathy syndrome: report of 2 cases and literature review

作　　者：庞雄 刘海明 陈波[1] 王丹 徐谷根 PANG Xiong;LIU Haiming;CHEN Bo;WANG Dan;XU Gugen(Department of Endocrinology,the Affiliected Guangdong Second Provincial General Hospital of Jinan University,Guangdong Province,Guangzhou510310,China;The First Clinical Medical College,Guangdong Medical University,Guangdong Province,Guangzhou524023,China)

机构地区：[1]暨南大学附属广东省第二人民医院内分泌科,广东广州510310 [2]广东医科大学第一临床医学院,广东广州524023

出　　处：《中国当代医药》2024年第34期126-129,共4页China Modern Medicine

基　　金：广东省广州市科技局市校(院)联合资助与应用基础研究项目(202201020567);广东省第二人民医院3D打印科研项目(3D-D2020022)。

摘　　要：自身免疫性多发内分泌腺病综合征(APS)是以多个腺体或非内分泌腺体自身免疫损害及功能变化为主要表现的罕见疾病,起病隐匿,常导致多器官受累。本文回顾性分析暨南大学附属广东省第二人民医院收治的2例APS患者基本资料、临床表现、生化指标、影像学资料、基因检测结果及治疗转归,并复习相关文献开展讨论。本文根据临床表现及辅助检查,其中1例检查提示“原发性甲状旁腺功能减退症”“低钙血症”,确诊为APSⅠ型;1例检查提示“原发性肾上腺皮质功能减退症”,确诊为APSⅡ型,经激素替代及对症治疗后病情缓解。临床应尽早开展腺体功能评估与相关抗体筛查,尽早明确诊断并提供规范对症治疗与长期随访,以期改善临床预后效果。Autoimmune polyendocrinopathy syndrome(APS)is a rare disease characterized by autoimmune damage and functional changes in multiple glands or non-endocrine glands,with insidious onset and multiple organ involvement.This paper retrospectively analyzes the basic data,clinical manifestations,biochemical indicators,imaging data,genetic test results and treatment outcome of two patients with APS in the Second People's Hospital of Guangdong Province,and reviews and discuss the relevant literature.According to the clinical manifestations and auxiliary examinations,one case was diagnosed as APS typeⅠwith"primary hypoparathyroidism"and"hypocalcemia".One case was diagnosed as APS typeⅡwith"primary adrenal insufficiency"and was relieved after hormone replacement and symptomatic treatment.Clinical evaluation of gland function and screening of related antibodies should be carried out as soon as possible,the diagnosis should be confirmed as soon as possible,and standardized symptomatic treatment and long-term follow-up should be provided to improve the clinical prognosis.

关 键 词：自身免疫性 多发内分泌腺病综合征 诊断 

分 类 号：R58[医药卫生—内分泌]