Danon病三例  

Clinical and pathological features of Danon disease

作　　者：王敏[1] 卢岩[1] 邸丽[1] 徐敏[1] 陈海[1] 栾沁榕 朵建英[1] 笪宇威[1] Wang Min;Lu Yan;Di Li;Xu Min;Chen Hai;Luan Qinrong;Duo Jianying;Da Yuwei(Department of Neurology,the Xuanwu Hospital of Capital Medical University,Beijing 100053,China)

机构地区：[1]首都医科大学宣武医院神经内科,北京100053

出　　处：《脑与神经疾病杂志》2022年第6期376-379,共4页Journal of Brain and Nervous Diseases

基　　金：北京市属医院科研培育计划(PZ 2020009)。

摘　　要：目的 总结Danon病患者的临床表现、实验室检查结果和骨骼肌的组织病理学特点。方法对3例Danon病患者的临床资料进行总结分析。结果 3例患者均为男性,2例患者主要症状为心脏受累表现,1例患者感四肢力弱,其他症状包括消瘦、视力下降、学习成绩差等。3例患者肌肉病理显示肌纤维内自噬空泡及嗜碱性物质沉积。基因检测发现3例患者溶酶体膜相关蛋白-2 (1ysosome-associated membrane protein-2,LAMP2)基因存在半合子突变。结论 Danon病主要表现为青少年起病的心肌病,预后差。对有心肌病和肌酸激酶升高的患者建议肌肉活检,肌肉病理对诊断和鉴别诊断有意义。Objective To summarize the clinical manifestations and the muscle histopathology features of patients with Danon disease.Methods Analyzed the clinical and laboratory data of 3 patients with Danon disease.Results Patients were all male.Cardiomyopathy was the first clinical manifestation in 2 patients.1 patient had weakness in four limbs.Muscle pathology showed autophagic vacuoles in muscle fibers.LAMP2 Gene mutations were detected in three patients with Danon disease.Conclusions Patients with Danon disease mainly present cardiomyopathy which may occur at early age.The prognosis of Danon disease is poor.Patients with cardiomyopathy and high CK level should have muscle biopsy.The pathology of skeletal muscle plays an important role on diagnosis and differential diagnosis of Danon disease.

关 键 词：Danon病 溶酶体膜相关蛋白-2 基因 突变 

分 类 号：R741[医药卫生—神经病学与精神病学]