Klippel-Trenaunay综合征

Klippel-Trenaunay Syndrome

Klippel-Trenaunay(KT)综合征是一种少见疾病,以血管畸形、静脉曲张和软组织及骨肥大三联征为主要表现。血管畸形中最常见的是葡萄酒色斑(鲜红斑痣),由以下肢多见。当合并动静脉瘘时,被称为Klippel-Trenaunay-weber综合征或Parkes-Weber综合征。其病因为PIK3CA基因突变。治疗是一个长期复杂的过程,需多学科联合管理,目前主要是对症处理。随着分子诊断技术的发展,基因靶向治疗是一种研究方向。

Klippel-Trenaunay（KT） syndrome is a rare disease characterized by vascular malformations,varicose veins and triad of soft tissue and bone hypertrophyWine stains（port wine stains） are the most common vascular malformations,which are mainly distributed in lower limbsWhen arteriovenous fistulas are present,they are called Klippel-Trenaunay-weber syndrome or Parkes-Weber syndrome,which is caused by PIK3CA gene mutationThe treatment is a rather complex and lengthy process requiring multidisciplinary management,which is mainly symptomaticThe continual evolving of molecular diagnosis enables the possibility of novel therapies targeting specific genes in the future.