家族性腺瘤性息肉病的诊断及外科治疗研究进展  

Research progress on diagnosis and surgical treatment of familial adenomatous polyposis

作　　者：孙彪彪(综述) 李耀平(审校) Biaobiao Sun;Yaoping Li(Shanxi Medical University,Taiyuan 030000,China;Department of Colorectal and Anal Surgery,Shanxi Provincial People's Hospital,Taiyuan 030000,China)

机构地区：[1]山西医科大学第五临床医学院,太原市030000 [2]山西省人民医院结直肠肛门外科二病区

出　　处：《中国肿瘤临床》2021年第24期1282-1286,共5页Chinese Journal of Clinical Oncology

摘　　要：家族性腺瘤性息肉病(familial adenomatous polyposis,FAP)是一种常染色体显性遗传性疾病。肠镜检查和基因检测为患者提供了早期诊断和治疗的机会,基因诊断是FAP诊断的发展方向,是进一步研究FAP发病机制的关键。全结直肠切除、回肠贮袋-肛管吻合术(ileal pouch-anal anastomosis,IPAA)和结直肠次全切除、回肠-直肠吻合术(ileorectal anastomosis,IRA)是治疗FAP的主要手术方式,尤其是腹腔镜的应用,为外科医生提出了新的机遇和挑战,新术式的提出及其安全性和有效性需要在临床工作中验证并持续改进和发展。FAP的结直肠外表现不可忽视,尤其是十二指肠癌及壶腹癌和硬纤维瘤(desmoid tumour,DT),已成为导致患者死亡的重要原因。本文就FAP的诊断及外科治疗方面进行综述。Familial adenomatous polyposis(FAP)is an autosomal dominant disease.Colonoscopy and genetic testing provide patients with an opportunity of early diagnosis and treatment.Genetic testing is the development direction of FAP diagnosis and the key to further study on its pathogenesis.Total proctocolectomy with ileal pouch-anal anastomosis(IPAA)and total colectomy with ileorectal anastomosis(IRA)is the main surgical approach in FAP treatment,especially the application of laparoscopy,and it provides new opportunities and challenges for surgeons.The proposal of new surgical procedures and their safety and effectiveness need to be verified in clinical studies and further improvement and development.The extracolorectal manifestations of FAP should not be neglected,especially duodenal and ampullary cancers and desmoid tumors,which have become important causes of death in patients.This review focuses on the diagnosis and surgical treatment of FAP.

关 键 词：家族性腺瘤性息肉病 肠镜检查 回肠贮袋-肛管吻合术 回肠-直肠吻合术 

分 类 号：R596.1[医药卫生—内科学]