Peutz-Jeghers综合征的诊断和治疗进展

中国综合临床 Pub Date : 2019-07-01 DOI:10.3760/CMA.J.ISSN.1008-6315.2019.04.019

Quan-Li Zhu, Wei Wu, Peng Chen, Diarra mohamed Diaty

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引用次数: 0

摘要

Peutz-Jeghers综合征(PJS)是一种以胃肠道多发息肉和粘膜黑斑为特征的罕见综合征。病因尚不清楚。主要临床表现为消化道症状及皮肤黏膜色素沉着。诊断主要依靠临床表现和辅助检查。多发性胃肠道息肉常可通过内镜检查发现。基因检测常能检测出丝氨酸/苏氨酸激酶11 (STK11)或肝激酶B1 (LKB1)的突变，诊断准确率较高。目前关于PJS的报道很少，还缺乏系统的认识。本文综述PJS的发病率、临床表现、辅助检查、诊断、治疗及进展。关键词:Peutz-Jeghers综合征;诊断与治疗

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Advances in the diagnosis and treatment of Peutz-Jeghers syndrome

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. Key words: Peutz-Jeghers Syndrome; Diagnosis and treatment

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来源期刊

中国综合临床

CiteScore

0.10

自引率

0.00%

发文量

16855

期刊介绍： Clinical Medicine of China is an academic journal organized by the Chinese Medical Association (CMA), which mainly publishes original research papers, reviews and commentaries in the field. Clinical Medicine of China is a source journal of Peking University (2000 and 2004 editions), a core journal of Chinese science and technology, an academic journal of RCCSE China Core (Extended Edition), and has been published in Chemical Abstracts of the United States (CA), Abstracts Journal of Russia (AJ), Chinese Core Journals (Selection) Database, Chinese Science and Technology Materials Directory, Wanfang Database, China Academic Journal Database, JST Japan Science and Technology Agency Database (Japanese) (2018) and other databases.