黑斑息肉综合征21例临床诊疗分析

Clinical Diagnosis and Treatment of 21 Cases of Peutz-Jeghers Syndrome

摘要: 目的：总结分析黑斑息肉综合征(Peutz-Jeghers syndrome, PJS)的临床特点、病理特征、检查结果、诊断、治疗及预后，探讨诊疗方案，提高对该病的诊治率。方法：回顾性分析2014年1月至2022年1月云南省第一人民医院收治的21例PJS患者的临床资料，并复习相关文献。结果：21例患者就诊时年龄11~56岁，均存在消化道多发息肉，18例有黑斑表现，7例有家族遗传史，临床上表现为黑斑、腹痛、腹泻、贫血等，16例行内镜下息肉切除治疗，5例行手术治疗，其息肉病理类型有错构瘤(9例)，腺瘤性息肉(20例)，管状腺瘤(8例)，增生性息肉(6例)。21例患者1例考虑合并肠结核，目前行经验性抗结核治疗，1例失访(具体诊治不详)，其余19例患者均定期随访，行胃镜、小肠镜或结肠镜下息肉切除术，未见恶变。结论：PJS是一种以皮肤黏膜色素沉着、消化道多发息肉和癌症易感性为特征的遗传性疾病，治疗以内镜治疗为主，患者应定期复查及随访。

Abstract: Objective: To summarize and analyze the clinical features, pathological features, examination re-sults, diagnosis, treatment and prognosis of Peutz-Jeghers syndrome (PJS), and explore the diagno-sis and treatment options to improve the diagnosis and treatment rate of the disease. Methods: The clinical data of 21 patients with PJS who were admitted to the First People’s Hospital of Yunnan Province from January 2014 to January 2022 were retrospectively analyzed, and the related litera-ture was reviewed. Results: Twenty-one patients aged 11~56 years old at the time of treatment had multiple polyps in the digestive tract. There were 18 cases with black spots and 7 cases with family genetic history. The clinical manifestations were black spots, abdominal pain, diarrhea, anemia, etc. 16 cases underwent endoscopic polypectomy, and 5 cases underwent surgical treatment. The pathological types of polyps were hamartoma (9 cases), adenomatous polyp (20 cases), tubular ad-enoma (8 cases), and proliferative polyp (6 cases). One case of 21 patients was considered to be complicated with intestinal tuberculosis. At present, empirical anti-tuberculosis treatment was performed. One case was lost to follow-up (unknown diagnosis and treatment); nineteen patients were followed up regularly. Polypectomy under endoscopy, enteroscopy or colonoscopy was per-formed without malignant transformation. Conclusion: PJS is a hereditary disease characterized by pigmentation of skin and mucous membrane, multiple polyps of digestive tract and cancer suscep-tibility. Endoscopic treatment is the main treatment. Patients should be regularly reviewed and followed up.