Peutz-Jeghers综合征的诊治进展和预防性治疗

Advances in the prevention,diagnosis and treatment of Peutz-Jeghers syndrome

Peutz-Jeghers综合征(Peutz-Jeghers syndrome,PJS)以皮肤黏膜色素斑、胃肠道错构瘤息肉和遗传性为临床特征.PJS胃肠道息肉可产生梗阻、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,其中双气囊电子小肠镜对于PJS胃肠道息肉的诊断和治疗具有重要的临床意义.随着转化医学的进步,分子靶向治疗为PJS胃肠道息肉带来预防性治疗的新途径,其代表就是环氧合酶-2的选择性抑制剂.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.本文在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,结合自身经验;提出了PJS胃肠道息肉的中西医结合综合治疗设想.以期提高临床医生对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.

Peutz-Jeghers syndrome （PJS） is an autosomal dominant inherited disease caused by inactivating germline mutations of the LKB1/STK11 gene and characterized by mucocutaneous pigmentation,multiple gastrointestinal hamartomatous polyps and family history.Life-threatening complications include intestinal obstruction and an increased risk for developing gastrointestinal malignancies and extraintestinal cancers.Surgery and endoscopic therapy are still main ways to manage gastrointestinal polyposis in PJS patients,and double-balloon enteroscopy has important clinical significance in the diagnosis and treatment of this disease.With the development of translational medicine,molecular targeted therapy （e.g.,selective COX-2 inhibitors） brings a new approach to preventive treatment of gastrointestinal polyposis in PJS patients.Traditional Chinese medicine provides an alternative choice.In this paper,we review the recent advances in the prevention,diagnosis and treatment of PJS.