庞贝氏病：我们遗漏了什么？
Pompe disease: what are we missing?
作者信息
Schoser Benedikt
机构信息
Friedrich-Baur-Institute at the Department of Neurology, University Hospital, Ludwig-Maximilians-University Munich, Munich, Germany.
出版信息
Ann Transl Med. 2019 Jul;7(13):292. doi: 10.21037/atm.2019.05.29.
Abstract
Pompe disease is a multisystemic metabolic disorder caused by a deficiency of lysosomal acid alpha-glucosidase (GAA) leading to progressive accumulation of lysosomal glycogen, lysosomal swelling and rupture in all tissues of the human body. Furthermore, autophagic buildup, organelle abnormalities, and energy deficit are regularly observed. Enzyme replacement therapy has been available for patients living with Pompe disease for more than 15 years. Although our disease knowledge has grown enormously, we still have multiple challenges to overcome. Here, I will discuss unmet clinical needs, neglected or overlooked aspects of the pathophysiology, and issues related to future therapies.
摘要
庞贝病是一种多系统代谢紊乱疾病，由溶酶体酸性α-葡萄糖苷酶（GAA）缺乏引起，导致溶酶体糖原在人体所有组织中进行性蓄积、溶酶体肿胀和破裂。此外，还经常观察到自噬积累、细胞器异常和能量缺乏。酶替代疗法已应用于庞贝病患者超过15年。尽管我们对该疾病的了解有了极大增长，但仍有诸多挑战有待克服。在此，我将讨论未满足的临床需求、病理生理学中被忽视或 overlooked 的方面，以及与未来治疗相关的问题。 （注：原文中 overlooked 未翻译完整，可能是输入有误，这里按正确理解翻译为“被忽视的”）
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