一例结节性硬化症多器官受累患者的多学科诊疗  

A Case Report of Multidisciplinary Diagnosis and Treatment of a Patient with Tuberous Sclerosis Complex and Multi⁃Organ Involvement

作　　者：郑华 智云飞 应露静 朱兰[3] 计鸣良 梁择 王江山[4] 石海峰[5] 张伟宏[5] 孝梦甦[6] 张玉石[7] 徐凯峰[8] 卢朝辉[9] 刘雅萍 徐瑞燚[11] 朱惠娟[12] 文礼 张炎[13] 陈罡[1] 陈丽萌[1] ZHENG Hua;ZHI Yunfei;YING Lujing;ZHU Lan;JI Mingliang;LIANG Ze;WANG Jiangshan;SHI Haifeng;ZHANG Weihong;XIAO Mengsu;ZHANG Yushi;XU Kaifeng;LU Zhaohui;LIU Yaping;XU Ruiyi;ZHU Huijuan;WEN Li;ZHANG Yan;CHEN Gang;CHEN Limeng(Department of Nephrology,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Internal Medicine,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Obstetrics and Gynecology,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Emergency Department,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Radiology,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Ultrasound,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Urology,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Respiratory Medicine,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Pathology,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Institute of Clinical Medicine,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Cardiology,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Endocrinology,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)

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内科,北京100730 [3]中国医学科学院北京协和医院妇产科,北京100730 [4]中国医学科学院北京协和医院急诊科,北京100730 [5]中国医学科学院北京协和医院放射科,北京100730 [6]中国医学科学院北京协和医院超声医学科,北京100730 [7]中国医学科学院北京协和医院泌尿外科,北京100730 [8]中国医学科学院北京协和医院呼吸内科,北京100730 [9]中国医学科学院北京协和医院病理科,北京100730 [10]中国医学科学院北京协和医院临床医学研究所,北京100730 [11]中国医学科学院北京协和医院心内科,北京100730 [12]中国医学科学院北京协和医院内分泌科,北京100730 [13]中国医学科学院北京协和医院血液内科,北京100730

出　　处：《罕见病研究》2024年第1期79-86,共8页Journal of Rare Diseases

摘　　要：结节性硬化症(TSC)是一种罕见的遗传性疾病,可于皮肤、脑、眼、口腔、心脏、肺脏、肾脏、肝脏和骨骼等多部位器官发生良性血管平滑肌脂肪瘤,主要表现为癫痫、智力障碍、皮肤白斑和面部血管纤维瘤等症状,发病率为1/10000~1/6000新生儿。本例展示了一例中年女性,以癫痫、结节样白斑起病,后期出现下腹包块、肌酐升高、重度贫血,根据临床特征和全外显子组测序明确原发病为TSC,实验室和影像学检查明确下腹包块为子宫来源,CT引导下穿刺活检病理和手术病理考虑平滑肌瘤伴脓肿。患者多器官受累,存在主线诊断之外诸多合并症,该例患者的诊治过程体现了严谨的临床思维和多学科协作在疑难罕见病诊疗过程中的重要意义。Tuberous sclerosis complex(TSC)is a rare genetic disease that can lead to benign dysplasia in multiple organs such as the skin,brain,eyes,oral cavity,heart,lungs,kidneys,liver,and bones.Its main symptoms include epilepsy,intellectual disabilities,skin depigmentation,and facial angiofibromas,whilst inci-dence is approximately 1 in 10000 to 1 in 6000 newborns.This case presents a middle-aged woman who initial-ly manifested with epilepsy and nodular depigmentation.Later,she developed a lower abdominal mass,elevated creatinine,and severe anemia.Based on clinical features and whole exome sequencing,the primary diagnosis was confirmed as TSC.Laboratory and imaging examinations revealed that the lower abdominal mass originated from the uterus.CT-guided biopsy pathology and surgical pathology suggested a combination of leiomyoma and abscess.With the involvement of multiple organs and various complications beyond the main diagnosis,the di-agnostic and therapeutic process for this patient highlights the importance of rigorous clinical thinking and multi-disciplinary collaboration in the diagnosis and treatment of rare and challenging diseases.

关 键 词：结节性硬化症 子宫脓肿 贫血 

分 类 号：R737[医药卫生—肿瘤]