VHL综合征1例报告并文献复习  

Diagnosis and treatment of von Hippel-Lindau disease (report of one case and literature review)

作　　者：汪群锋[1] 梁朝朝[2] 朱劲松[1] 陈志洁[1] 戴宇红[1] 鲍彤[1] WANG Qun- feng;LIANG Chao- zhao;ZHU Jin -song;CHEN Zhi -jie;DAI Yu -hong;BAO Tong(Department of Urology,Anqing Municipal Hospital,Anqing Hospital Affiliated to Au hui Medical University,Anqing 246003,Chin)

机构地区：[1]安庆市立医院安徽医科大学附属安庆医院泌尿外科,246003 [2]安徽医科大学附属第一医院泌尿外科

出　　处：《现代泌尿生殖肿瘤杂志》2018年第2期76-78,共3页Journal of Contemporary Urologic and Reproductive Oncology

摘　　要：目的探讨VHL综合征的诊断与治疗方法,提高对本病的认识。方法回顾性分析安庆市立医院诊断的1例VHL综合征患者的临床资料,并对其进行跟踪回访。结果患者通过CT、MRI影像学检查,结合其家族病史,确诊为VHL综合征。后就诊于外院行腹腔镜肾部分切除术,术后病理证实为肾透明细胞癌。随访至今,生存良好,肾未见肿瘤复发。结论 VHL综合征是一种罕见的家族遗传性疾病,可累及全身多个脏器,临床表现复杂多样。早期可通过基因检测确诊,病变累及肾脏时,首选考虑腹腔镜保肾手术(肾部分切除)。Objective To investigate the diagnosis and treatment of von Hippel-Lindau（VHL）disease,in order to improve the level of recognition and diagnosis of the disease. Methods The clinical data of one patient of VHL disease with renal tumor in Anqing Municipal Hospital were retrospectively analyzed and literature was reviewed. Results We present a case with family history of VHL disease.CT and MRI indicated renal tumor.VHL disease with renal carcinoma was diagnosed and the patient underwent retroperitoneal laparoscopic nephron-sparing surgery in other hospital and the pathology was renal cell carcinoma.The patient recovered well and was still followed up.No recurrence was found. Conclusions Genetic diagnostic test had an important value for early diagnosis of VHL disease.Retroperitoneal laparoscopic nephron-sparing surgery should be the first choice for patients with VHL syndrome complicated by renal carcinoma.

关 键 词：VHL综合征 肾肿瘤 诊断 治疗 

分 类 号：R730.5[医药卫生—肿瘤]