Klippel-Trenaunay综合征的研究进展  

Research advances in Klippel-Trenaunay syndrome in children

作　　者：刘纪兰 刘海燕 Liu Jilan;Liu Haiyan(Department of Pediatric Gastroenterology,Linyi Maternal&Children’s Healthcare Hospital,Linyi Branch of Shanghai Children’s Medical Center,Shanghai Jiao Tong University School of Medicine,Linyi 276000,China;Department of Pediatrics,Affiliated Shandong Provincial Hospital,Shandong First Medical University,Jinan 250021,China)

机构地区：[1]临沂市妇幼保健院、上海交通大学附属上海儿童医学中心临沂医院小儿消化内科,临沂276000 [2]山东第一医科大学附属省立医院儿科,济南250021

出　　处：《临床小儿外科杂志》2025年第3期292-295,共4页Journal of Clinical Pediatric Surgery

基　　金：山东省自然科学基金面上项目(ZR2020MH144)。

摘　　要：Klippel-Trenaunay综合征(Klippel-Trenaunay syndrome,KTS)是一种以毛细血管畸形、静脉畸形、肢体肥大为主要表现的过度生长综合征,大多数于新生儿期、婴儿早期、儿童期被发现。目前其病因及发病机制正在进一步研究中,多与体细胞PIK3CA基因突变相关。患儿临床表现多样,不同脏器系统受累可引起相应的并发症。目前本病尚无法根治,以保守治疗为主,主要的管理目标是早期诊断,尽早干预,减少并发症,促进患儿健康发育,提高生活质量。Klippel Trenaunay syndrome(KTS)is an overgrowth syndrome characterized by capillary malformations,venous malformations,extremity hypertrophy and with or without lymphatic malformations.It frequently occurs in neonates,infants and toddlers.Its etiology and pathogenesis have been associated with mutations in somatic PIK3CA gene.Its clinical manifestations are diverse and affect different organ systems.Currently there is no cure and conservative measures are applied.The major goals are early diagnosis,early intervention,reducing complications,promoting healthy development and improving quality-of-life.

关 键 词：KLIPPEL-TRENAUNAY综合征 静脉畸形 管理 淋巴管畸形 PIK3CA基因 

分 类 号：R725.9[医药卫生—儿科]