家族性腺瘤性息肉病的诊疗进展  

Progress in diagnosis and treatment of familial adenomatous polyposis

作　　者：方媛[1] 张宇 刘伟臻 张夏青 朱勇[1] FANG Yuan;ZHANG Yu;LIU Weizhen;ZHANG Xiaqing;ZHU Yong(Proctology Department,Nanjing Hospital of Chinese Medicine Affiliated to Nanjing University of Chinese Medicine,Nanjing 210022,China)

机构地区：[1]南京中医药大学附属南京中医院肛肠科,江苏南京210022

出　　处：《中国肿瘤外科杂志》2022年第4期406-411,共6页Chinese Journal of Surgical Oncology

摘　　要：家族性腺瘤性息肉病(FAP)是一种临床表现为结肠、直肠出现数百至数千枚腺瘤性息肉的常染色体显性遗传病。FAP终生患癌率近100%,需尽早干预与治疗。由于其极低的患病率,临床专科医生对FAP的最新诊疗进展认知受限。文章梳理了FAP的发病机制与遗传学、临床表现、诊断,重点论述了该疾病的治疗、预防以及中医药治疗思路,为临床医生对该病的诊疗提供依据。Familial adenomatous polyposis(FAP)is an autosomal dominant genetic disease characterized by hundreds to thousands of adenomatous polyps in the colon and rectum.Because of the canceration rate is about 100%,the intervention for this disease should be performed as soon as possible.Due to its extremely low prevalence rate,clinical specialists have limited awareness of the latest progress in the diagnosis and treatment of FAP.the pathogenesis,genetics,clinical manifestations and diagnosis of FAP will be introduced in this paper,focusing on the prevention and traditional Chinese medicine treatment of the disease,which provides a basis for clinicians in the diagnosis and treatment of FAP.

关 键 词：家族腺瘤性息肉病 APC基因 手术 化学预防 

分 类 号：R735.3[医药卫生—肿瘤]