{"title":"[Diagnosis and treatment of familial adenomatous polyposis in children].","authors":"Y L Hu, W X Chen, Y Jin, H Yang","doi":"10.3760/cma.j.cn112140-20230221-00117","DOIUrl":null,"url":null,"abstract":"儿童家族性腺瘤性息肉病(FAP)是一种常染色体显性遗传病,主要由腺瘤性息肉病(APC)基因突变引起,多数患儿有家族史。FAP患儿的结直肠中常出现成百上千个腺瘤,发展为腺癌的风险较高。内镜检查和基因检测有利于早期诊断和干预。FAP复发率高且无有效根治方法。现就儿童FAP的诊断和治疗进行综述。.","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2023-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Zhonghua er ke za zhi = Chinese journal of pediatrics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3760/cma.j.cn112140-20230221-00117","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}