Von Hippel-Lindau综合征4例影像学表现和遗传史回顾及文献复习  

Imaging findings,genetic history review and literature review of Von Hippel-Lindau syndrome:4 cases report

作　　者：赵洪全[1] 盖青竹 牛庆亮[3] 陈玉飞[1] 赵孟[1] 

机构地区：[1]烟台经济技术开发区医院影像科,264006 [2]烟台市烟台山医院影像科 [3]潍坊市中医院影像科

出　　处：《疑难病杂志》2014年第6期611-614,共4页Chinese Journal of Difficult and Complicated Cases

摘　　要：目的总结Von Hippel—Lindau（VHL）综合征的影像学表现和诊断方法。方法回顾分析4例VHL综合征患者的影像学、家族遗传史和其他临床资料，结合复习相关文献，探讨该少见遗传病的诊断方法。结果本组4例患者，男1例，女3例，年龄28～41岁，中位年龄34．3岁，影像学均表现为胰腺多发囊实性占位和双肾多发囊实性肿物。既往都有脑内肿瘤手术史和家族多人发病的遗传史，符合Maher等提出的该综合征诊断标准。结论VHL基因不同突变类型导致不同表现型，临床表现形式复杂多样，认识VHL综合征的影像特征，结合临床病史可以明显提高其诊断水平。Objective To explore and summarization Von Hippel-Lindau （VHL） syndrome imaging findings and the diagnostic method of the syndrome. Methods Retrospective analysis of four cases of VHL syndrome imaging data, family history and other clinical data, combined review of the relevant literature, discuss the diagnosis of rare genetic diseases. Results 4 patients in this group, 1 male and 3 females, aged 28 to 41 years, mean 34.3 years, imaging of the pancreas showed multiple eystic masses and multiple cystie kidneys of the tumor. All patients have brain tumors surgical history and a family history of VHL, in line with the syndrome diagnostic criteria proposed by Maher et al. Conclusion VHL gene mutation type lead to different phenotypes, complex and varied clinical manifestations, to recognize the imaging features of VHL syndrome, combining with the clinical history can obviously improve the diagnosis of the disease.

关 键 词：VHL综合征 遗传机制 良恶性肿瘤 影像诊断 

分 类 号：R596[医药卫生—内科学]