如何减少结节性硬化症相关淋巴管肌瘤病的误漏诊  

How to Reduce Misdiagnosis and Missed Diagnosis Rates of Tuberous Sclerosis Complex Patients with Lymphangioleiomyomatosis

作　　者：吴秀秀[1] 王俊[1] 徐凯峰[1] WU Xiu-xiu WANG Jun XU Kai-feng(Department of Respiratory Diseases, Peking Union Medical College Hospital Chinese Academy of Medical Sciences, Beijing 100730, China)

机构地区：[1]中国医学科学院北京协和医学院北京协和医院呼吸科,北京100730

出　　处：《临床误诊误治》2016年第10期1-3,共3页Clinical Misdiagnosis & Mistherapy

基　　金：北京市科技计划(Z151100003915126)

摘　　要：结节性硬化症(tuberous sclerosis complex,TSC)是一种常染色体显性遗传病,以细胞异常增生和组织发育不良为特征,可引起全身多个系统器官损害,肺部受累主要表现为淋巴管肌瘤病(lymphangioleiomyomatosis,LAM)。TSC相关LAM因临床表现多样,专科医师对其认知有限,误漏诊时有发生,以致延误病情,故早期诊断对于疾病的治疗及预后至关重要。对于成年女性TSC患者,需通过胸部高分辨CT和血清血管内皮生长因子-D等筛查与诊断方法确认是否患有LAM。提高相关专科医师对TSC相关LAM的认识,熟知其多种临床表现,详细问诊,仔细查体,认真鉴别诊断,可提高临床诊断率。Tuberous sclerosis complex （TSC） is an autosomal dominant inherited disease that is characterized by abnormal cellular proliferation and tissue dysplasia, and it can induce injuries of multisystem and organs, in which lymphangioleiomyomatosis （LAM） was found in involved lung. TSC-LAM diagnosis is always delayed, missed diagnosis or misdiagnosed because of its diverse clinical manifestations and limited understanding of physicians on this disease, and therefore early diagnosis is crucial for treatment and prognosis of TSC-LAM. For adult females with TSC, it is necessary to diagnose LAM by screening with hlgh-resolution chest computed tomography （CT） and serum vascular endothelial growth factor-D （VEGF-D）. Diagnosis rate of TSC-LAM can be increased by improving physicians＇understanding for TSC related LAM, learning its clinical symptoms, carefully performing inquisition and physical examination and differential diagnosis.

关 键 词：结节性硬化症 淋巴管肌瘤病 误诊 漏诊 述评 

分 类 号：R733.1[医药卫生—肿瘤] R596.1[医药卫生—临床医学]