儿童杜氏肌营养不良症概述：病理生理学、诊断和治疗方法

三秋 杨(首都医科大学，中国)

摘要

杜氏肌营养不良症 (DMD) 是一种严重的 X 连锁隐性遗传性肌肉疾病，发病于儿童早期，特征为进行性肌肉无力，常导致早期死亡。DMD 的核心病理机制是 DMD 基因突变导致的肌营养不良蛋白缺乏。临床上DMD 诊断依赖于综合方法，包括临床检查、实验室评估和基因检测。目前的治疗策略包括皮质类固醇疗法、外显子跳跃和基因疗法；然而，每种方法都面临着显著的挑战和局限性。支持性护理，特别是在管理心脏和呼吸系统方面，对于提高患者的生活质量仍然至关重要。DMD 的研究现在专注于推进基因传递技术、应用精准医疗进行个性化治疗以及开发生物标志物以解决疾病的复杂性和多系统受累。尽管已经取得了重大进展，但克服DMD的治疗挑战需要持续创新和多学科方法。

关键词

杜氏肌营养不良症；皮质类固醇疗法；外显子跳跃；基因疗法

参考

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DOI: http://dx.doi.org/10.12345/yzlcyxzz.v8i3.24728