摘要
Loeys-Dietz综合征(Loeys-Dietzsyndrome,LDS)是一种罕见的常染色体显性遗传性结缔组织病,特征性表现为主动脉瘤、动脉迂曲、眼距增宽、悬雍垂/腭裂三联征。与马方综合征(Marfansyndrome,MFS)等累及主动脉的遗传性结缔组织病相比,LDS病情更为凶险,未经手术的患者平均寿命仅26岁。LDS的发病机制尚不清楚,知晓率低,患者预后差。本文拟对LDS的诊断及治疗进展进行综述,以提高知晓率,促进早期识别和诊断,从而指导患者规范化治疗并改善预后。
Loeys-Dietz syndrome(LDS)is a rare autosomal dominant connective tissue disorder characterized by the clinical trial of hypertelorism,bifid uvula/cleft palate and aortic/arterial aneurysms and tortuosity.Compared to MFS or other inheritable connective tissue disorder,LDS were more widespread arterial involvement and progressive vascular process.The average life expectancy of patients without surgery is only 26 years.However,little is known about the pathogenesis and underling precise mechanisms.This review intends to discuss the progress on the diagnosis and treatment of LDS,in order to promote early identification and diagnosis as well as the standardized treatment so as to improve the long-term prognosis.
作者
胡馗(综述)
王春生(审校)
HU Kui;WANG Chun-sheng(Department of Cardiovascular Surgery,Guizhou Provincial People’s Hospital,Guiyang 550002,Guizhou Province,China;Department of Cardiovascular Surgery,Zhongshan Hospital,Fudan University,Shanghai 200032,China)
出处
《复旦学报（医学版）》
CAS
CSCD
北大核心
2022年第1期138-143,共6页
Fudan University Journal of Medical Sciences
基金
国家自然科学基金(82060094,81860159,81760329)
贵州省科学技术基金([2021]重点003,[2018]1099)
贵州省卫健委科学技术基金(gzwjkj2020-1-105)
