{"title":"【儿童家族性腺瘤性息肉病的诊断与治疗】。","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":"{\"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}","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}