丛状神经纤维瘤压迫泌尿系的Ⅰ型神经纤维瘤病患儿  

Neurofibromatosis Type 1 in a Child with Plexiform Neurofibroma Pressing the Urinary System

作　　者：许家宁 郭雅欣 王珊珊[2] 殷磊[3] 朱甲明 程文 姜红堃[6] 高兴华[1] 徐学刚[1] XU Jianing;GUO Yaxin;WANG Shanshan;YIN Lei;ZHU Jiaming;CHENG Wen;JIANG Hongkun;GAO Xinghua;XU Xuegang(Department of Dermatology,NHC Key Laboratory of Immunodermatology,Key Laboratory of Immunodermatology,Ministry of Education,National and Local Joint Engineering Research Center of Immunological Theranostics,the First Hospital of China Medical University,Shenyang 110001,China;Department of Radiology,the First Hospital of China Medical University,Shenyang 110001,China;Department of Urology,the First Hospital of China Medical University,Shenyang 110001,China;Department of Gastrointestinal Oncology,the First Hospital of China Medical University,Shenyang 110001,China;Department of Neurosurgery,the First Hospital of China Medical University,Shenyang 110001,China;Department of Pediatrics,the First Hospital of China Medical University,Shenyang 110001,China)

机构地区：[1]中国医科大学附属第一医院皮肤科,国家卫生健康委员会免疫皮肤病学重点实验室,免疫皮肤病学教育部重点实验室,免疫性皮肤病诊疗技术国家地方联合工程研究中心,沈阳110001 [2]中国医科大学附属第一医院放射科,沈阳110001 [3]中国医科大学附属第一医院泌尿外科,沈阳110001 [4]中国医科大学附属第一医院胃肠肿瘤外科,沈阳110001 [5]中国医科大学附属第一医院神经外科,沈阳110001 [6]中国医科大学附属第一医院儿科,沈阳110001

出　　处：《罕见病研究》2023年第2期186-190,共5页Journal of Rare Diseases

基　　金：上海交通大学遗传发育与精神神经疾病教育部重点实验室开放课题(2020GDN06)。

摘　　要：一例3岁男性患儿,确诊Ⅰ型神经纤维瘤病(NF1)两年。患者腹膜后、腰尾椎旁、腰骶部椎管、椎间孔等处多发神经纤维瘤。因腹膜后肿物压迫,导致患儿患有肾盂积水、输尿管扩张、神经源性膀胱等泌尿系统并发症,排尿功能受到严重影响,曾多次进行手术治疗。目前患者使用丝裂原激活细胞外信号调控激酶(MEK)抑制剂司美替尼靶向治疗,已有自主排尿,一般状态较用药前好转。该病例的诊治体现了多学科协作在罕见病诊疗过程中具有重要意义。A 3⁃year⁃old male patient was diagnosed with neurofibromatosis type 1(NF1)for two years.The patient has multiple neurofibromas in retroperitoneum,lumbococcygeal paravertebral,lumbosacral spinal canal,and foramina.Due to retroperitoneal mass compression,the child suffered from urological complications such as hydronephrosis,ureterdilation,neurogenic bladder,etc.,which seriously affected the urination function and resulted in multiple surgical treatments.Currently,the patient has been treated with mitogen acti⁃vates extracelluar signal⁃regulated kinases(MEK)inhibitor selumetinib targeted therapy,and has voluntarily urinated,and his general state is better than before medication.The diagnosis and treatment of this case reflects the importance of multidisciplinary collaboration in the diagnosis and treatment of rare diseases.

关 键 词：Ⅰ型神经纤维瘤病 丛状神经纤维瘤 肾盂积水 司美替尼 

分 类 号：R739[医药卫生—肿瘤]