Pompe disease in China: clinical and molecular characteristics

作者：Jing Li, Xiaohe Shi, Bo Wang, David H. Hsi, Xiaoli Zhu, Shengjun Ta, Jing Wang, Changhui Lei, Rui Hu, Junzhe Huang, Xueli Zhao, Liwen Liu · 发表于：Frontiers in Cardiovascular Medicine · 年份：2023 · DOI：10.3389/fcvm.2023.1261172 · 被引用次数：4 · 研究领域：Lysosomal Storage Disorders Research、Glycogen Storage Diseases and Myoclonus、Whipple's Disease and Interleukins

Background Pompe disease (PD) is a rare, progressive, and autosomal recessive lysosomal storage disorder caused by mutations in the acid α -glucosidase gene. The clinical course and molecular mechanism of this disease in China have not been well defined. Methods In this single-center cohort study, we investigated a total of 15 Chinese patients with Pompe disease to better understand the clinical manifestations, echocardiographic imaging and genetic characteristics in this population. Results The median age of 15 patients at symptom onset was 5.07 months (1–24 months). The median age at diagnosis was 19.53 months (range: 3 to 109 months, n = 15). Average diagnostic delay was 13.46 months. None of the patients had received enzyme replacement therapy (ERT). Fifteen patients died at a median age of 24.80 months due to cardiorespiratory failure (range 3–120 months). Myasthenia symptoms and severe hypertrophic cardiomyopathy were universally present (15/15 = 100%). Global longitudinal strain (GLS) by echocardiography was significantly lower in these patients. After adjusting for gender, body surface area (BSA), left ventricular ejection fraction (LVEF), E/e'ratio, maximum left ventricular wall thickness (MLVWT), left ventricular posterior wall (LVPW), left ventricular outflow tract (LVOT)gradient, GLS was independently correlated with survival time (hazard ratio (HR) = 0.702, 95% confidence Interval (CI): 0.532–0.925, P = 0.012). In our cohort, we identified 4 novel GAA mutation: c...