摘要
Danon病是一种罕见的x染色体连锁显性溶酶体糖原储存疾病,通常由溶酶体膜蛋白酶-2(LAMP2)突变引起,预后较差。该病临床常表现为心脏病变、骨骼肌病、智力障碍三联征,心脏病变是最主要的表现。本文就Danon病的临床、电生理改变、心脏磁共振表现及鉴别诊断进行综述,通过提高临床对该病的临床和心血管磁共振影像学表现的认识,为患者的早期诊断提供帮助。
Danon Disease is a rare,X-linked,and highly penetrant vacuolar myopathy caused by the Lysosomal-Associated Membrane Protein-2.The disease typically presents with a clinical trial of the diseased heart muscle(cardiomyopathy),weakness of body muscles(skeletal myopathy),and neurobehavioral problems,and cardiomyopathy is the most important manifestation.In this paper,the clinical and electrophysiological manifestations,cardiovascular magnetic resonance characters,and differential diagnosis of Danon's disease were reviewed.By improving the clinical understanding of the clinical and cardiac MRI characters of Danon's disease,it will be helpful for the early diagnosis of patients.
作者
张杨
李小虎
赵韧
刘斌
钱银锋
袁玉山
余永强
ZHANG Yang;LI Xiao-hu;ZHAO Ren;LIU Bin;QIAN Yin-feng;YUAN Yu-shan;YU Yong-qiang(Imaging Center,Fuyang People's Hospital Affiliated to Anhui Medical University,Fuyang 236015,Anhui Province,China;Department of Radiology,the First Affiliated Hospital of Anhui Medical University,Hefei 230022,Anhui Province,China;Department of Cardiovascular Medicine,the First Affiliated Hospital of Anhui Medical University,Hefei 230022,Anhui Province,China)
出处
《中国CT和MRI杂志》
2021年第7期5-8,36,共5页
Chinese Journal of CT and MRI
基金
国家自然科学基金面上项目(82071897、81970446)。
关键词
达农病
磁共振成像
临床特点
Danon Disease
Magnetic Resonance Imaging
Clinical Profile
