马方综合征临床表型变异机制的研究进展  

Research advances in the clinical phenotypic variation of Marfan syndrome

作　　者：李正红 胡馗[1] Li Zhenghong;Hu Kui(Department of Cardiovascular Surgery,Guizhou Provincial People's Hospital,Guiyang 550002,China;Zunyi Medical University,Zunyi 563000,China)

机构地区：[1]贵州省人民医院心外科,贵阳550002 [2]遵义医科大学,遵义563000

出　　处：《中华胸心血管外科杂志》2024年第3期167-171,共5页Chinese Journal of Thoracic and Cardiovascular Surgery

基　　金：国家自然科学基金(82260103、82060094);贵州省科技计划项目(黔科合基础-ZK[2021]重点003);贵州省高层次创新型人才项目(黔科合平台人才-GCC[2023]084);国家临床重点专科建设项目。

摘　　要：马方综合征(Marfan syndrome, MFS)是一种由基因突变引起的常染色体显性遗传性结缔组织病, 其致病机制尚未完全阐明。由于MFS临床表型复杂多变且无法预测, 使得轻症或非典型患者的诊断变得困难, 极易出现误诊或漏诊, 延误诊疗。因此, 明确引起MFS表型变异的机制对轻症及非典型患者诊断、表型的预测、预后的评估具有重要意义。本文针对马方综合征临床表型变异的机制及其研究进展进行综述, 以期指导临床诊疗工作。Marfan syndrome(MFS)is an autosomal dominant connective tissue disease caused by genetic mutation,and its pathogenesis has not been fully clarified.Due to the complex and unpredictable clinical phenotype of MFS,the diagnosis of preclinical or atypical patients becomes difficult,and it is easy to misdiagnose,which delaying the diagnosis and treatment.Therefore,it is of great significance to clarify the mechanism of MFS phenotypic variation for the diagnosis,phenotypic prediction and prognosis evaluation of MFS patients.Here,we review the mechanism and research progress of the clinical phenotypic variation of MFS,with the aim of guiding clinical diagnosis and treatment.

关 键 词：马方综合征 临床表型 MFS 变异机制 

分 类 号：R593.2[医药卫生—内科学]