摘要
Peutz-Jeghers综合征(PJS)是一种常染色体显性遗传性疾病,伴有黏膜色素沉着和胃肠道错构瘤性息肉。PJS息肉可发生于整个胃肠道,但多发生于小肠。目前多认为PJS由位于染色体19p13.3的STK11基因突变所致。本文就PJS的致病基因、病理特征、临床诊治等方面的研究进展作一综述。
Peutz-Jeghers syndrome （PJS） is an autosomal dominant inherited disease, which is characterized by mucocutaneous pigmentation and hamartomatous polyps. PJS polyps occur throughout the gastrointestinal tract, but are most often localized in small intestine. PJS is believed to be caused by germline mutation of STK11 gene located on chromosome 19p13.3. This article reviewed the progress in studies of virulence gene, pathological characteristics, clinical diagnosis and treatment of PJS.
出处
《胃肠病学》
2011年第4期246-249,共4页
Chinese Journal of Gastroenterology
基金
全军‘十一五’基金课题(06MA032)资助
