摘要
Peutz-Jeghers综合征(Peutz-Jeghers syndrome,PJS)是一种常染色体显性遗传性疾病,主要突变基因是LKB1/STK11,胃肠道错构瘤,皮肤黏膜色素斑和家族遗传性为其主要特点,主要并发症是肠梗阻和肠道及胃肠道外恶性肿瘤.本病好发于青少年,除有恶变倾向外,由肠道息肉导致的并发症,反复住院,多次手术,高昂的医疗费用,对国内只有一个独生子女的小家庭,危害极大.本文着重论述PJS临床诊断和治疗中的一些问题,如双气囊电子小肠镜的临床应用,内镜配合手术治疗的经验,介绍抑制环氧化酶2(COX-2)抑制剂和雷帕霉素预防PJS的新动向.
Peutz-Jeghers syndrome （PJS） is an autosomal dominant inherited disease, which is caused by inactivating germline mutations in LKB1/STK11 and characterized by mucocutaneous pigmentation, multiple gastrointestinal hamartomatous polyps and family history. Life-threatening complications include intestinal obstruction, an increasing risk for developing gastrointestinal malignancies and extraintestinal cancers. PJS more frequently happens to teenagers. Besides susceptibility to malignant cancer, it was characterized by complications associated with polyps, repeated hospitalizations and operations, as well as a high cost of medical cost, which especially brings harm to one-child family in China. This paper focuses on the diagnoses and treatments in PJS, such as clinical use of double-balloon enteroscopy and open surgery combined with intraoperative endoscopy. Also, COX-2 inhibitors and rapamycin for chemoprevention are introduced.
出处
《世界华人消化杂志》
CAS
北大核心
2008年第21期2385-2389,共5页
World Chinese Journal of Digestology
