2023 国际共识:Danon病患者的鉴别诊断和管理

2023-10-11 国外心血管相关专家小组(统称) J Am Coll Cardiol 发表于上海

本文回顾了Danon病的鉴别诊断,诊断标准,自然史,管理建议和治疗进展。

中文标题:

2023 国际共识:Danon病患者的鉴别诊断和管理

英文标题:

International Consensus on Differential Diagnosis and Management of Patients With Danon Disease: JACC State-of-the-Art Review

发布日期:

2023-10-11

简要介绍:

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,以心肌肥厚、骨骼肌病和智力障碍为主要临床表现。本文回顾了Danon病的鉴别诊断,诊断标准,自然史,管理建议和治疗进展。
 

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    2023-11-19 ms1000000977341076 来自天津

    在哪下载?下载后在哪查看

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    2023-10-17 litao2022 来自上海

拓展阅读

罕见病例|以反复肝功能异常为表现的Danon病1例

因对Danon病的认识不足,临床上将Danon病与代谢相关脂肪性肝病相混淆,从而造成误诊漏诊。现将收治的1例Danon病例报道如下。

Danon病的临床表现和MRI特征

国内研究团队通过对一个中国家庭3例DD患者的CMR特征进行描述,旨在探讨多参数MR特征在DD诊断及治疗后随访中的价值。