Allgrove综合征1例及文献复习  

Allgrove syndrome:A case report and literature review

作　　者：周妮 王源媛 麦平[2] Zhou Ni;Wang Yuanyuan;Mai Ping(School of Medicine,Jiangsu University,Zhenjiang 212000;Department of Gastroenterology,Gansu Provincial Hospital,Lanzhou 730030)

机构地区：[1]江苏大学医学院,镇江212000 [2]甘肃省人民医院消化内科,兰州730030

出　　处：《中国综合临床》2023年第5期342-346,共5页Clinical Medicine of China

摘　　要：目的探讨Allgrove综合征患者的临床表现、诊断及治疗方法。方法回顾性分析甘肃省人民医院2018年8月8日收治的1例Allgrove综合征患者的临床资料,并复习相关文献。结果患者,女,20岁,因吞咽困难10年,加重4年就诊,自幼无泪,上消化道钡餐提示食管下端狭窄,呈“鸟嘴”状改变;食管测压提示多发蠕动失败;实验室检查提示血浆皮质醇低下、促肾上腺皮质激素(adrenocorticotropic hormone,ACTH)升高。临床诊断为Allgrove综合征,行经口内镜下环形肌切开术(peroral endoscopic myotomy,POEM)改善吞咽困难,予激素替代治疗,术后长期随访,症状缓解。结论Allgrove综合征为多系统疾病,出现可疑症状时应警惕该病的可能,必要时行基因检测有助于早期诊断。治疗方面,主要是对表现出的症状和体征进行相应的处理,需要多学科相互协助。Objective To discuss the clinical manifestations,diagnosis and treatment of a patient with Allgrove syndrome.Methods Retrospective analysis of the clinical data of a patient with Allgrove syndrome admitted to Gansu Provincial People's Hospital on August 8,2018,and review of relevant literature.Results The patient,female,20 years old,presented with dysphagia for 10 years and aggravated for 4 years.No tears since childhood.The upper digestive tract barium meal showed that lower esophageal stenosis,a"beak"shaped change.Esophageal manometry suggested multiple peristalsis failures.Laboratory tests showed low plasma cortisol and high ACTH.The clinical diagnosis was Allgrove syndrome.POME was performed to improve dysphagia,and hormone replacement therapy was given.The symptoms were improved after long-term follow-up.Conclusion Allgrove syndrome is a multisystem disease.The possibility of Allgrove syndrome should be vigilant when suspicious symptoms appear.If necessary,gene detection is helpful for early diagnosis.Treatment,which focuses on the appropriate management of the manifested signs and symptoms,requires the mutual assistance of multiple disciplines.

关 键 词：Allgrove综合征 无泪症 贲门失弛缓症 肾上腺皮质功能减退症 

分 类 号：R725.9[医药卫生—儿科]