摘要
目的探讨及总结表现为胰腺多发囊肿的Ⅰ型Von Hipple-Lindau综合征(VHL综合征)的临床特点及诊疗策略。方法分析上海交通大学医学院附属瑞金医院1例因胰腺多发囊肿就诊的Ⅰ型VHL综合征患者特征并复习近10年国内外相关文献报道的病例资料。结果文献资料14例及因胰腺多发囊肿就诊本院的Ⅰ型VHL综合征患者中,女性占80%,平均诊断年龄44.9岁,临床表现以消化道症状为主。仅有5例患者进行VHL基因突变检测,3例证实存在VHL基因突变。治疗的策略包括:观察随访4例,全胰腺切除2例,胰腺部分切除6例,肿瘤剜除1例,改流手术及支架置入2例。结论目前临床上对VHL综合征缺乏足够认识,且无根治手段,加强临床医师对这一复杂遗传疾病的认识,提高VHL综合征的诊断率,有助于延长患者生存期,改善生活质量。
Objective To investigate and summarize the clinical characteristics and treatment strategies of typeⅠ von hipple-lindau (VHL) syndrome. Methods A case of type ⅠVHL syndrome demostrated with multiple pancreatic cysts in Shanghai Ruijin Hospital was reported. And similar cases reported in domestic and foreign literatures in recent 10 years were reviewed. Results There were 14 patients from literatures and 1 patient from our hospital. Among them, women accounted for 80%, and average age was 44.9 years old. The main clinical manifestations was digestive tract symptoms.VHL gene was detected in only 5 cases and 3 cases were positive. The treatment strategies included follow up observation (4 cases), total pancreatic resection (2 cases), partial resection of the pancreas (6 cases), enucleation of tumors (1 case), reflow surgery and stent placement (2 cases). Conclusion There is limited knowledge on VHL syndrome in clinical practice, and there are no radical cure strategies. Clinicians should increase the awareness and improve the diagnostic rate of VHL syndrome, which will help to improve the survival time and life quality of VHL patients.
作者
刘奥
谢荣理
赵治锋
张俊
沈东杰
顾建华
许志伟
徐丹枫
费健
LIU Ao;XIE Rongli;ZHAO Zhi-feng;ZHANG Jun;SHEN Dong-jie;GU Jian-hua;XU Zhi-wei;XU Dan-feng;FEI Jian(Department of General Surgery,Ruijin Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200025,China;D.epartment of Urology Surgery,Ruijin Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200025,China;Department of General Surgery,Ruijin Hospital Luwan Branch,Shanghai Jiao Tong University School of Medicine,Shanghai 200020,China;Department of General Surgery,Dongnan Hospital of Huangpu District,Shanghai 200023,China.)
出处
《肝胆胰外科杂志》
CAS
2019年第4期221-225,232,共6页
Journal of Hepatopancreatobiliary Surgery
基金
国家自然科学基金项目(81670581
81671901
81600501)
