Klippel-Trenaunay综合征的研究进展OA北大核心
Research advances in Klippel-Trenaunay syndrome in children
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 fre-quently occurs in neonates,infants and toddlers.Its etiology and pathogenesis have been associated with muta-tions in somatic PIK3CA gene.Its clinical manifestations are diverse and affect different organ systems.Current-ly there is no cure and conservative measures are applied.The major goals are early diagnosis,early interven-tion,reducing complications,promoting healthy development and improving quality-of-life.
刘纪兰;刘海燕
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山东第一医科大学附属省立医院儿科,济南 250021
Klippel-Trenaunay综合征静脉畸形管理淋巴管畸形PIK3CA基因
Klippel-Trenaunay SyndromeVenous MalformationsManagementLymphatic Malforma-tionsPIK3CA Gene
《临床小儿外科杂志》 2025 (3)
292-295,4
山东省自然科学基金面上项目(ZR2020MH144) General Project of Shandong Provincial Natural Science Foundation(ZR2020MH144)
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