Peutz-Jeghers综合征发病机制及临床诊治研究进展  

Pathogenesis, diagnosis, and treatment of Peutz-Jeghers syndrome

作　　者：李白容 孙涛 蒋宇亮 宁守斌 Bai-Rong Li;Tao Sun;Yu-Liang Jiang;Shou-Bin Ning(Departmentof Gastroenterology, Chinese People’s Liberation Army Air Force Characteristic Medical Center, Beijing 100142, China)

机构地区：[1]中国人民解放军空军特色医学中心消化内科,北京市100142

出　　处：《世界华人消化杂志》2019年第9期576-582,共7页World Chinese Journal of Digestology

基　　金：空军总医院年度计划课题;No.kz2015026~~

摘　　要：Peutz-Jeghers综合征(peutz-jeghers syndrome, PJS)是一种常染色体显性遗传疾病,目前已被证实的致病基因为STK11.该病的特征性表现为皮肤黏膜色素斑、消化道多发错构瘤性息肉及肿瘤易感性.基于目前研究报道, STK11胚系突变可能通过干扰正常的细胞凋亡、细胞分裂G1期阻滞、细胞极化及细胞间质水平的细胞增殖抑制等导致了PJS消化道息肉及恶性肿瘤的发生.治疗消化道息肉及息肉相关并发症是干预该病的主要手段.近年来,气囊辅助小肠镜治疗PJS小肠息肉经验不断积累、安全性得到了充分认可,使得大部分患者避免了外科开腹手术,这对改善了患者生活质量及远期预后有重要意义.另外,针对PJS随年龄增长消化道息肉生长特点及显著增加消化道及非消化道恶性肿瘤风险,我们按照年龄阶段进行有差别有针对的随访策略.Peutz-Jeghers syndrome (PJS), an autosomal dominant inherited disease, is caused by germinal mutations of the STK11. It is characterized by gastrointestinal hamartomas, mucocutaneous pigmentation and increased cancer risk. Germline mutations in STK11 cause a harmful effect on cell apoptosis, G1 arrest, and cell polarization, which leads to polyp formation and cancer occurrence. Balloonassisted enteroscopy is widely used in removal of PJS polyps in the small bowel and it is proved to be safe and effective. We suggest to screen polyps and cancer in PJS patients, which seems to benefit these patients in the long run.

关 键 词：Peutz–Jeghers综合征 STK11 息肉 恶性肿瘤 气囊辅助小肠镜 

分 类 号：R596[医药卫生—内科学]