Gardner和Turcot综合征的临床特点93例  

Clinical features of Gardner syndrome and Turcot syndromein Chinese population:an analysis of 93 cases

作　　者：曹海龙[1] 王邦茂[1] 曹晓沧[1] 

机构地区：[1]天津医科大学总医院消化科,天津市300052

出　　处：《世界华人消化杂志》2010年第36期3922-3925,共4页World Chinese Journal of Digestology

摘　　要：目的:分析中国人家族性腺瘤性息肉病亚型Gardner综合征和Turcot综合征的临床特点.方法:在CBM和PubMed中检索1983年-2009年中国人两类综合征的病例资料并进行回顾性分析.结果:发现Gardner综合征个案报道37例以及12个家系的患者50例.Turcot综合征报道6例,未见家系报道.前者以结肠多发息肉合并纤维瘤、骨瘤和软组织肿瘤为主要表现,28例息肉癌变;后者主要表现为结肠多发息肉合并中枢神经系统肿瘤,5例息肉癌变.少数报道胃、十二指肠和末端回肠息肉,尚无对小肠病变的全面评价.一些特殊表现为疾病早期发现提供重要价值.综合防治可使部分患者得到改善.结论:中国人Gardner综合征和Turcot综合征的临床特点多种多样,结肠外表现突出.详细进行筛查记录和规范化报道有助于对其深入认识.AIM：To investigate the clinical characteristics of Gardner syndrome and Turcot syndrome,two variants of familial adenomatous polyposis,in Chinese population.METHODS：The clinical data for Chinese patients with Gardner syndrome and Turcot syndrome were retrieved from Chinese Biomedical Database and PubMed（1983-2009） to conduct a meta-analysis.RESULTS：A total of 37 sporadic cases of Gardner syndrome and 12 pedigrees containing 50 affected individuals were identified.In contrast,only six sporadic cases of Turcot syndrome were identified.Gardner syndrome often manifests itself as gastrointestinal polyposis combined with fibroma,osteoma and soft tissue neoplasm.Twenty-eight patients with Gardner syndrome had malignant polyps in the colon.Turcot syndrome often manifests itself as gastrointestinal polyposis and neoplasms of the central nervous system.Five patients with Turcot syndrome had malignant polyps.Several cases of polyps in the stomach,duodenum and distal ileum were reported.However,an overall assessment of small intestinal lesions had not been performed.Some special clinical manifestations might be helpful for early diagnosis of the two diseases.Some patients had symptomatic response to comprehensive therapy.CONCLUSION：Chinese patients with Gardner syndrome or Turcot syndrome have variable clinical manifestations,especially extraintestinal manifestations.Careful screening and case report standardization may promote a better understanding of the two rare disorders.

关 键 词：家族性腺瘤性息肉病 GARDNER综合征 TURCOT综合征 

分 类 号：R735.34[医药卫生—肿瘤]