组织工程与重建外科杂志2025，Vol.21Issue(3)：305-310,6.DOI:10.3969/j.issn.1673-0364.2025.03.015
Proteus综合征的研究及诊疗新进展
Advances in the research,diagnosis and treatment of Proteus syndrome
摘要
Abstract
Proteus syndrome is a localized proliferative disorder caused by a somatic activating mutation in AKT1(c.49G→A,p.Glu17Lys).The most common manifestations include cerebriform connective tissue nevi,exostoses,and pulmonary cystic changes,often resulting in a shortened lifespan for affected individuals.The clinical presentation is highly heterogeneous,involving multiple tissues,which complicates diagnosis and treatment.This paper systematically reviewed the etiology,animal models,clinical manifestations,diagnosis,and treatment of Proteus syndrome,aiming to support precise medical interventions for this rare disease.关键词
海神综合征/激活性突变/精准医学Key words
Proteus syndrome/Activating mutation/Precision medicine分类
医药卫生引用本文复制引用
王志博,王斌..Proteus综合征的研究及诊疗新进展[J].组织工程与重建外科杂志,2025,21(3):305-310,6.基金项目
国家重点研发计划(2022YFC2703700,2022YFC2703704) （2022YFC2703700,2022YFC2703704）
上海交通大学医学院附属第九人民医院先天性肢体畸形生物样本库建设项目(YBKB202108)、罕见病注册登记项目(JYHJB202205). （YBKB202108）
