无尿、突盲、意识障碍:一例不寻常的“成人斯蒂尔斯病”  

Anuria,Sudden Blindless,Confusion:A Case of Unusual“Adult Still Disease”

作　　者：乐偲[1,2] 刘岩 秦岩[1,2] 焦禹豪 苏龙翔[4] 徐军 刘炜 赵森 杨璐[8] 王迁[9] 李宁宁 陈有信 韩冰[2,12] 张波[13] 李雪梅 陈丽萌[1,2] YUE Cai;LIU Yan;QIN Yan;JIAO Yuhao;SU Longxiang;XU Jun;LIU Wei;ZHAO Sen;YANG Lu;WANG Qian;LI Ningning;CHEN Youxin;HAN Bing;ZHANG Bo;LI Xuemei;CHEN Limeng(Department of Nephrology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;State Key Laboratory of Complex Severe and Rare Diseases,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Internal Medicine,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Intensive Care Unit,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Emergency Medicine,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Radiology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Orthopedic Surgery,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Dermatology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Rheumatology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Oncology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Ophthalmology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Hematology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Pharmacy,Peking Union Medical College H

机构地区：[1]中国医学科学院北京协和医院肾内科,北京100730 [2]中国医学科学院北京协和医院疑难重症及罕见病国家重点实验室,北京100730 [3]中国医学科学院北京协和医院内科,北京100730 [4]中国医学科学院北京协和医院重症医学科,北京100730 [5]中国医学科学院北京协和医院急诊科,北京100730 [6]中国医学科学院北京协和医院放射科,北京100730 [7]中国医学科学院北京协和医院骨科,北京100730 [8]中国医学科学院北京协和医院皮肤科,北京100730 [9]中国医学科学院北京协和医院风湿免疫科,北京100730 [10]中国医学科学院北京协和医院肿瘤科,北京100730 [11]中国医学科学院北京协和医院眼科,北京100730 [12]中国医学科学院北京协和医院血液科,北京100730 [13]中国医学科学院北京协和医院药剂科,北京100730

出　　处：《罕见病研究》2022年第1期51-55,共5页Journal of Rare Diseases

基　　金：中国医学科学院医学与健康科技创新工程项目(2017⁃I2M⁃2⁃001,2021⁃I2M⁃1⁃003)。

摘　　要：一例青年女性,因发热、关节痛、皮疹诊断为成人斯蒂尔斯病,激素治疗过程中出现无尿、突盲、意识障碍,病情凶险,诊疗难度大。经多学科协作及团队共同讨论,考虑诊断为不典型溶血尿毒症综合征,经依库珠单抗治疗,获得良好的治疗效果。不典型溶血尿毒症综合征属于罕见疾病,依库珠单抗属于孤儿药。对该例患者的诊治体现了多学科协作在疑难罕见病诊疗过程中的重要意义。A young female patient presented with fever,arthralgia,and rash was diagnosed with adults still􀆳s disease.When treated with glucocorticoid steroid,the above patient progressed to anuria,sudden,and confusion.After a teamwork involving different departments,the patient was finally diagnosed with atypical he⁃molytic uremic syndrome(aHUS)and treated with good outcome.aHUS is a rare disease,while Eculizumab is an orphan drug.The diagnosis and treatment of the patient reveals the importance of multidisciplinary team on the diagnosis and treatment of rare and difficult diseases.

关 键 词：成人斯蒂尔斯病 血栓性微血管病 不典型溶血尿毒症综合征 依库珠单抗 

分 类 号：R559[医药卫生—血液循环系统疾病] R692.9[医药卫生—内科学]