Peutz-Jeghers 综合征研究进展

›› 2015, Vol. 35 ›› Issue (5): 405-407.

Peutz-Jeghers 综合征研究进展

张世玉¹,范媛²

1. 南京医科大学口腔医学院
2. 江苏省口腔医院

收稿日期:2014-11-28 修回日期:2015-01-02 出版日期:2015-05-28 发布日期:2015-05-13
通讯作者: 范媛 E-mail:fanyuan65@hotmail.com
基金资助:
国家自然科学基金;江苏省高校优势学科建设工程资助项目

Research progress in the study of Peutz-Jeghers syndrome

¹,

Received:2014-11-28 Revised:2015-01-02 Online:2015-05-28 Published:2015-05-13

摘要/Abstract

摘要： Peutz-Jeghers综合征（Peutz-Jeghers syndrome,PJS）又叫色素沉着息肉综合征，伴有口腔黏膜、口周皮肤等部位色素斑及胃肠道错构瘤性息肉，是一种由丝氨酸/苏氨酸蛋白激酶（LKB1/STK11）胚系突变导致的常染色体显性遗传性疾病。大部分患者皮肤黏膜色素斑的临床表现早于胃肠道息肉。近年来因口腔黏膜及口周皮肤色素斑前来口腔科就诊的患者数逐渐增多，患者并无自觉症状，经胃肠道检查后才确诊。为了使口腔科医务工作者能更好的了解、诊断Peutz-Jeghers综合征，本文从病因、肿瘤易感性、临床表现、诊断、检查及治疗、预防方面对PJS进行阐述和总结。

关键词: Peutz-Jeghers综合征, LKB1/STK11, 诊断, 治疗

Abstract: Peutze-Jeghers syndrome (PJS) is an autosomal dominant genetic disease caused by a germline mutation in the STK11/LKB1 gene and associated with pigmentation in oral mucosa,perioral skin ect. and gastrointestinal hamartomatous polyps.Most patients′ mucocutaneous pigmentations emerged before gastrointestinal polyps.In recent years, the number of patients with pigmentation in oral mucous and perioral skin have gradually increased in the department of stomatology.With no subjective symptoms,they are not diagnosed as having Peutze-Jeghers syndrome until gastrointestinal examination.To enable stomatology medical workers better understand and diagnose Peutz-Jeghers syndrome,this paper will expound and summarize PJS in terms of etiology,tumor susceptibility,clinical manifestation,diagnosis,examination and treatment,and its prevention.

Key words: Peutz-Jeghers syndrome, LKB1/STK11, diagnosis, therapy

中图分类号:

R781.5

张世玉范媛. Peutz-Jeghers 综合征研究进展[J]. 口腔医学, 2015, 35(5): 405-407.

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