Department of Clinical and Experimental Sciences, University of Brescia, 25100 Brescia, Italy.
Unit of Neurology, ASST Spedali Civili, 25100 Brescia, Italy.
Biomolecules. 2023 Aug 22;13(9):1279. doi: 10.3390/biom13091279.
Pompe disease (PD) is an autosomal recessive disorder caused by mutations in the gene that lead to a deficiency in the acid alpha-glucosidase enzyme. Two clinical presentations are usually considered, named infantile-onset Pompe disease (IOPD) and late-onset Pompe disease (LOPD), which differ in age of onset, organ involvement, and severity of disease. Assessment of acid alpha-glucosidase activity on a dried blood spot is the first-line screening test, which needs to be confirmed by genetic analysis in case of suspected deficiency. LOPD is a multi-system disease, thus requiring a multidisciplinary approach for efficacious management. Enzyme replacement therapy (ERT), which was introduced over 15 years ago, changes the natural progression of the disease. However, it has limitations, including a reduction in efficacy over time and heterogeneous therapeutic responses among patients. Novel therapeutic approaches, such as gene therapy, are currently under study. We provide a comprehensive review of diagnostic advances in LOPD and a critical discussion about the advantages and limitations of current and future treatments.
庞贝病（PD）是一种常染色体隐性遗传疾病，由基因中的突变引起酸性α-葡萄糖苷酶缺乏。通常考虑两种临床表现，分别命名为婴儿发作型庞贝病（IOPD）和晚发型庞贝病（LOPD），它们在发病年龄、器官受累和疾病严重程度上有所不同。在干血斑上评估酸性α-葡萄糖苷酶活性是一线筛查试验，如果疑似缺乏，需要通过基因分析进行确认。LOPD 是一种多系统疾病，因此需要多学科方法进行有效的管理。酶替代疗法（ERT）在 15 年前被引入，改变了疾病的自然进程。然而，它存在一些局限性，包括随着时间的推移疗效降低和患者之间治疗反应的异质性。新型治疗方法，如基因治疗，目前正在研究中。我们全面回顾了 LOPD 的诊断进展，并对当前和未来治疗方法的优势和局限性进行了批判性讨论。
