Peutz-Jeghers综合征的诊治进展

Advances in the diagnosis and treatment of Peutz-Jeghers syndrome

Peutz-Jeghers综合征(peutz-jeghers syndrome,PJS)是一类少见的以胃肠道多发性息肉和黏膜黑斑为临床表现的综合征。病因尚不完全清晰,临床表现主要以消化道症状和皮肤黏膜色素沉着为主。诊断主要依靠患者临床表现及辅助检查。内镜检查常可发现胃肠道多发性息肉,基因检测常可发现丝氨酸/苏氨酸激酶11(serine/threonine kinase 11,STK11)或称肝激酶B1(liver kinase B1,LKB1)基因突变,诊断准确率高。对于PJS目前多为个案报道,尚缺乏系统性认识。我们对PJS的发病情况、临床表现、辅助检查及诊治与进展作一综述。

Peutz-Jeghers syndrome(PJS)is a rare syndrome characterized by multiple polyps of gastrointestinal tract and black spots of mucosa.The etiology is unclear yet.The main clinical manifestations are digestive tract symptoms and pigmentation of skin and mucosa.The diagnosis mainly depends on clinical manifestations and auxiliary examinations.Multiple gastrointestinal polyps can often be found by endoscopy.Gene testing can often detect mutations of serine/threonine kinase 11(STK11)or liver kinase B1(LKB1),which has high diagnostic accuracy.At present,PJS is rarely reported,and there is still a lack of systematic understanding.This paper reviews the incidence,clinical manifestations,auxiliary examinations,diagnosis,treatment and progress of PJS.