家族性黑斑息肉综合征1例报道

One Case Analysis of Peutz-Jeghers Syndrome Inherited in a Family

黑斑息肉综合征(Peutz-Jeghers syndrome, PJS)是一种罕见的常染色体显性遗传性疾病,伴有胃肠道错构瘤和皮肤黏膜色素沉着,现阶段相关研究报道该病由丝氨酸/苏氨酸激酶11或肝激酶B1(STK11/LKB1)基因的种系突变引起。患者常表现为胃肠息肉、肠套叠等,导致肠梗阻甚至出血,需要手术治疗,并且患癌风险较正常人显著增加。因此对于PJS这样恶性度高,发病率低且较易误诊的疾病应引起临床医生的重视,做到早发现、早诊断、早监测、早治疗,从而降低患者的死亡率和发病率。

Peutz-Jeghers syndrome is a rare, autosomal dominant, hereditary polyposis syndrome defined by gastrointestinal hamartomas and mucocutaneous pigmentations, caused by a germline mutation in the serine/threonine kinase 11 or liver kinase B1 (STK11/LKB1) genes. Patients often need surgi-cal treatment cause of gastrointestinal polyps, intussusception, etc., sometimes with intestinal ob-struction or even bleeding. The risk of cancer is significantly higher than normal people. Therefore, doctors should pay more attention to PJS which has higher malignancy, lower incidence and easier misdiagnosis, to achieve early detection, diagnosis, monitoring and treatment, and reduce the mor-tality and morbidity of patients.