Klippel Trenaunay综合征的研究进展  

Research progress in Klippel Trenaunay Syndrome

作　　者：张红琴(综述) 栗玉珍(审校)[1] ZHANG Hongqin;LI Yuzhen(Department of Dermatology,Second Affiliated Hospital of Harbin Medical University,Harbin 150086,China)

机构地区：[1]哈尔滨医科大学附属第二医院皮肤性病科,哈尔滨150086

出　　处：《临床与病理杂志》2021年第7期1690-1695,共6页Journal of Clinical and Pathological Research

摘　　要：Klippel Trenaunay综合征(Klippel Trenaunay Syndrome,KTS)是一种毛细血管畸形、静脉曲张、肢体畸形、伴或不伴有淋巴管畸形的过度生长综合征。病因常与体细胞PIK3CA基因突变相关。其临床表现多样,从影响美容的鲜红斑痣到危及生命的静脉血栓栓塞均可见。本病尚无法根治,主要的管理目标应该是提高患者的生活质量和减少并发症,及早诊断、影像学评估及多学科管理可以有效改善患者生活质量。Klippel Trenaunay Syndrome(KTS)falls into overgrowth spectrum.Symptoms of it include capillary malformation,phlebeurysma,limb deformity with or without lymphangion malformation.Its causes are mostly related to the genic mutation of somatic cell PIK3CA.KTS has various clinical manifestation,including Port-wine stains and venous thromboembolism—the former can affect appearance and the latter can endanger life.As KTS yet cannot be cured from root causes,the crucial method is to improve the quality of life for patients and reduce the incidence rate of complications.Early diagnosis,imaging assessment and multidisciplinary management can effectively improve the quality of life for patients.

关 键 词：Klippel Trenaunay综合征 影像学评估 多学科管理 

分 类 号：R75[医药卫生—皮肤病学与性病学]