2nd Department of Medicine, Charles University in Praha, Faculty of Medicine at Hradec Králové, University Teaching Hospital, Sokolská 581, Hradec Králové 500 05, Czech Republic.
World J Gastroenterol. 2009 Nov 21;15(43):5397-408. doi: 10.3748/wjg.15.5397.
Peutz-Jeghers syndrome (PJS) is an inherited, autosomal dominant disorder distinguished by hamartomatous polyps in the gastrointestinal tract and pigmented mucocutaneous lesions. Prevalence of PJS is estimated from 1 in 8300 to 1 in 280,000 individuals. PJS predisposes sufferers to various malignancies (gastrointestinal, pancreatic, lung, breast, uterine, ovarian and testicular tumors). Bleeding, obstruction and intussusception are common complications in patients with PJS. Double balloon enteroscopy (DBE) allows examination and treatment of the small bowel. Polypectomy using DBE may obviate the need for repeated urgent operations and small bowel resection that leads to short bowel syndrome. Prophylaxis and polypectomy of the entire small bowel is the gold standard in PJS patients. Intraoperative enteroscopy (IOE) was the only possibility for endoscopic treatment of patients with PJS before the DBE era. Both DBE and IOE facilitate exploration and treatment of the small intestine. DBE is less invasive and more convenient for the patient. Both procedures are generally safe and useful. An overall recommendation for PJS patients includes not only gastrointestinal multiple polyp resolution, but also regular lifelong cancer screening (colonoscopy, upper endoscopy, computed tomography, magnetic resonance imaging or ultrasound of the pancreas, chest X-ray, mammography and pelvic examination with ultrasound in women, and testicular examination in men). Although the incidence of PJS is low, it is important for clinicians to recognize these disorders to prevent morbidity and mortality in these patients, and to perform presymptomatic testing in the first-degree relatives of PJS patients.
皮杰特-杰格斯综合征（PJS）是一种遗传性常染色体显性疾病，其特征为胃肠道错构瘤性息肉和色素性黏膜皮肤病变。PJS 的患病率估计为每 8300 至 280000 人中 1 例。PJS 使患者易患多种恶性肿瘤（胃肠道、胰腺、肺、乳腺、子宫、卵巢和睾丸肿瘤）。出血、梗阻和肠套叠是 PJS 患者的常见并发症。双气囊小肠镜（DBE）可用于检查和治疗小肠。使用 DBE 进行息肉切除术可能避免需要反复进行紧急手术和小肠切除术，从而导致短肠综合征。对 PJS 患者进行预防性和全小肠息肉切除术是金标准。在 DBE 时代之前，IOE 是 PJS 患者内镜治疗的唯一可能。DBE 和 IOE 均可促进小肠的探查和治疗。DBE 创伤较小，对患者更方便。两种方法通常都安全且有用。对 PJS 患者的总体建议不仅包括胃肠道多发性息肉的解决，还包括终生定期进行癌症筛查（结肠镜检查、上消化道内镜检查、计算机断层扫描、胰腺磁共振成像或超声检查、胸部 X 射线检查、乳房 X 射线检查和女性盆腔超声检查，以及男性睾丸检查）。尽管 PJS 的发病率较低，但临床医生识别这些疾病对于预防这些患者的发病率和死亡率以及对 PJS 患者的一级亲属进行症状前检测非常重要。
