Pompe Disease: Presentation and Management of Early Onset Type with Perioperative Considerations
Pompe Disease: Presentation and Management of Early Onset Type with Perioperative Considerations
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庞贝氏病：早发型的表现和处理及围手术期注意事项
DOI：
10.21767/2380-7245.100189
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发表时间：
2018
期刊：
影响因子：
--
通讯作者：
R. Bulbulia
中科院分区：
文献类型：
--
作者：
Bulbulia Ba;Nazeefah Laher;R. Bulbulia
早发性庞贝氏症是一种罕见疾病，通常诊断较晚。肌张力减退、肌肉无力和心肺功能障碍是其标志。 GAA 酶的血液检测是该疾病的敏感且特异的标志物。酶替代疗法 (ERT) 的早期干预可改善发病率和长期生存率，但治疗费用昂贵且需要终生。即将出现的基因疗法似乎很有希望。
Early onset Pompe disease is a rare disorder often diagnosed late. Hypotonia, muscle weakness and cardiorespiratory dysfunction are its hallmark. Blood assay of the GAA enzyme is a sensitive and specific marker of the disease. Early intervention with enzyme replacement therapy (ERT) improves morbidity and long term survival, however therapy is both costly and a lifelong requirement. Gene therapy which is on the horizon appears promising.