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儿童Peutz-Jeghers综合征研究现状

童琴 赵红梅

中国当代儿科杂志2024,Vol.26Issue(10):1122-1126,后插1,6.
中国当代儿科杂志2024,Vol.26Issue(10):1122-1126,后插1,6.DOI:10.7499/j.issn.1008-8830.2404054

儿童Peutz-Jeghers综合征研究现状

Current research status of Peutz-Jeghers syndrome in children

童琴 1赵红梅1

作者信息

  • 1. 湖南省儿童医院消化营养科,湖南长沙 410007
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摘要

Abstract

Peutz-Jeghers syndrome(PJS)is an autosomal dominant genetic disorder characterized by mucocutaneous pigmentation and multiple hamartomatous polyps,which leads to an increased susceptibility to tumors.The clinical incidence is rare,and the only currently identified pathogenic gene is the serine/threonine kinase 11/liver kinase B1(STK11/LKB1)located on the short arm of chromosome 19(19p13.3).This condition can lead to various complications,such as gastrointestinal bleeding,intussusception,intestinal obstruction,and malignancy.In childhood,the greatest risk is associated with intussusception,which increases the risk of surgical intervention and significantly impacts the growth,development,and quality of life of the children.This article provides an overview of the current research status regarding the clinical characteristics,etiology,pathogenesis,diagnosis,and treatment of PJS in children.

关键词

Peutz-Jeghers综合征/消化道息肉/儿童

Key words

Peutz-Jeghers syndrome/Gastrointestinal polyp/Child

引用本文复制引用

童琴,赵红梅..儿童Peutz-Jeghers综合征研究现状[J].中国当代儿科杂志,2024,26(10):1122-1126,后插1,6.

中国当代儿科杂志

OA北大核心CSTPCDMEDLINE

1008-8830

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