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口周色素沉着-肠道息肉综合征 被引量:3

Peutz-Jeghers syndrome
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摘要 口周色素沉着-肠道息肉综合征(PJS)是一种少见的常染色显性遗传性疾病。临床表现除了口腔黏膜、手、足和唇部等部位色素沉着和胃肠道息肉外,还有其他系统肿瘤病变。目前发现的致病基因有STK11基因,另外FHIT基因的突变和缺失可能在PJS的病情发展和癌变中起了一定的作用,还有报道常染色体19q13.4区带也存在一个致病基因。息肉治疗方面应根据息肉类型进行针对性治疗。 Peutz Jeghers syndrome (PJS) is an autosomal dominantly inherited disease characterized by hamartomatous gastrointestinal polyposis and melanin spots on the buccal mucosa, hands, feet and lips, and also other system tumors. The STK11/LKB1 gene germline mutation has been identified as being responsible for PJS. Also, the mutation and deletion of FHIT gene also play a part in the state of the PJS illness and its cancerization. And furthermore, there maybe another gene, maps 19p13.3. The treatment for the hamartomatous gastrointestinal polyposis should be on the basis of the potypus type.
作者 田艳 康晓静
出处 《国际消化病杂志》 CAS 2009年第1期20-22,32,共4页 International Journal of Digestive Diseases
基金 新疆维吾尔自治区重点科技攻关项目资助(编号:200633129)
关键词 色素沉着 肠道息肉 临床表现 诊断 发病机制 Melanin spot Gastrointestinal polyposis Clinical feature Diagnosis Nosogenesis
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