GNAQ/ GNA11相关毛细血管畸形疾病谱的研究进展  

Research progress of GNAQ/GNA11-related capillary malformation spectrum

作　　者：何瑞 马琳[2] 徐子刚[2] 张斌[2] He Rui;Ma Lin;Xu Zigang;Zhang Bin(Department of Dermatology,Beijing Anzhen Hospital,Capital Medical University,Beijing 100020,China;Department of Dermatology,Beijing Children′s Hospital,Capital Medical University,National Center for Children′s Health,Beijing 100045,China)

机构地区：[1]首都医科大学附属北京安贞医院皮肤科,北京100020 [2]国家儿童医院中心,首都医科大学附属北京儿童医院皮肤科,北京100045

出　　处：《中华预防医学杂志》2025年第2期247-253,共7页Chinese Journal of Preventive Medicine

基　　金：国家重点研发计划(2023YFC2508200);北京儿童医院第三批“苗圃”人才培养计划(3-1-014-01-36)。

摘　　要：毛细血管畸形(CM)作为脉管畸形中最常见的类型,在临床上具有广泛的诊疗需求,需对此类疾病进行深入研究并制定有效的管理策略。除单纯性CM以外,还存在一大类疾病表现为CM相关综合征,其发病均与 GNAQ、 GNA11基因的体细胞突变密切相关。这类疾病在临床表现、合并症状及管理预后方面存在诸多共性与差异,对临床诊断、鉴别诊断和规范化治疗提出了挑战。鉴于此,本文旨在阐述 GNAQ/ GNA11相关毛细血管畸形疾病谱(GNARCMs)的研究新进展,并对其致病机制、临床表现以及治疗方案的选择进行归纳与分析。Capillary malformations(CM),the most common type of vascular malformations,has a wide range of clinical needs for diagnosis and treatment.In-depth research and effective management strategies need to be developed for this disease.Beyond the simplex forms of CM,there exists a broad category of disorders manifested as CM-related syndromes,closely associated with somatic mutations in the GNAQ and GNA11 genes.These diseases present numerous commonalities and differences in clinical manifestations,associated symptoms,and management outcomes,posing challenges for clinical diagnosis,differential diagnosis,and standardized treatment.Considering this,this article aims to provide an overview of the latest research advancements in the spectrum of GNAQ/GNA11 related capillary malformation diseases,offering a comprehensive summary and in-depth discussion of their pathogenic mechanisms,clinical presentations,and treatment options.

关 键 词：毛细血管畸形 GNAQ/GNA11基因突变 致病机制 诊疗策略 

分 类 号：R543.7[医药卫生—心血管疾病]