Peutz-Jeghers综合征预防性治疗的研究

Peutz-Jeghers综合征(PJS)又称黑斑息肉病,以皮肤黏膜色素斑、消化道错构瘤息肉和遗传性为临床特征。PJS消化道息肉可产生梗阻、出血、套叠、恶变等严重并发症;目前其临床治疗以手术和内镜治疗为主,都是局部、被动的治疗手段,而无法达到预防息肉发生发展的作用。随着针对PJS的转化医学的进步,针对细胞信号通路及其关键酶的分子靶向药物使PJS消化道息肉的预防性治疗成为可能,其代表是环氧合酶-2的选择性抑制剂和哺乳动物雷帕霉素靶蛋白抑制剂。而以"济生乌梅丸"为代表的中药也为PJS息肉的预防性治疗提供另一个选择。本文总结近年来国内外学者在PJS研究中所取得的共识与进展的基础上,结合自身临床诊治经验,提出了中西医结合预防性治疗PJS胃肠道息肉的思路和方法。以提高临床医生对PJS胃肠道息肉的诊治能力,从而使PJS患者能得到最大的临床获益。

Preventative treatment of Peutz-Jeghers syndrome

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.Now operation and endoscope therapy still are main way to cure gastrointestinal polyposis of PJS.With the developing of translational medicine,molecular targeted therapy brings a new approach to prevent treatment of PJS,and the most representative inhibitors are selective COX-2 inhibitors and the mTOR inhibitors.Traditional Chinese medicine is an alternative choice.Based on summary of our clinical experience on diagnosis and treatment of gastrointestinal polyposis of PJS,and combined with recently developing,we explored the comprehensive treatment of PJS with combination of traditional Chinese medicine and western medicine in order to improve clinician’s capabilities of diagnosis and treatment of it,and make patients with PJS get the most clinical profit.