Avanti Mahima, Martin Angela, Columbres Rod Carlo, Mozaffar Tahseen, Kimonis Virginia
Division of Genetics, Department of Pediatrics, University of California - Irvine, Orange, CA 92697, United States of America.
Division of Neuromuscular Diseases, Department of Neurology, University of California- Irvine, 200 S. Manchester Ave., Suite 206, Orange, CA, United States of America.
Mol Genet Metab. 2023 Nov;140(3):107644. doi: 10.1016/j.ymgme.2023.107644. Epub 2023 Jun 28.
Pompe disease is an autosomal recessive disorder caused by a deficiency of α-glucosidase, resulting in the accumulation of glycogen in smooth, cardiac, and skeletal muscles, leading to skeletal muscle dysfunction, proximal muscle weakness, and early respiratory insufficiency. Although many patients exhibit decreased bone mineral density (BMD) and increased fractures, there is currently no official protocol for surveillance and management of osteoporosis and osteopenia in late onset Pompe disease (LOPD). Enzyme replacement therapy (ERT) has therapeutic effects on muscle function; however, very few studies report on the effect of ERT on bone mineralization in LOPD patients. Our study included 15 Pompe patients from 25 to 76 years of age on ERT for variable durations. Progressive impact of ERT on BMD of the hips and spine, and the frequency of osteopenia or osteoporosis was studied using DEXA scanning, and correlations were made with age of initiation of ERT, duration of ERT and six-minute walk test. We found a significant positive correlation between the age of ERT initiation and age of the subject, with increases in the Z-scores for the femur and lumbar region. Females had a significantly higher risk for developing osteoporosis compared to males. These results highlight the significance of ERT on reducing progression of osteoporosis in LOPD patients.
庞贝病是一种常染色体隐性疾病，由α-葡萄糖苷酶缺乏引起，导致糖原在平滑肌、心肌和骨骼肌中蓄积，进而导致骨骼肌功能障碍、近端肌无力和早期呼吸功能不全。尽管许多患者表现出骨密度（BMD）降低和骨折增加，但目前尚无针对晚发型庞贝病（LOPD）患者骨质疏松和骨质减少的监测及管理的官方方案。酶替代疗法（ERT）对肌肉功能有治疗作用；然而，很少有研究报道ERT对LOPD患者骨矿化的影响。我们的研究纳入了15名年龄在25至76岁之间接受不同时长ERT治疗的庞贝病患者。使用双能X线吸收法扫描研究ERT对髋部和脊柱骨密度的渐进影响以及骨质减少或骨质疏松的发生率，并将其与ERT开始年龄、ERT持续时间和六分钟步行试验进行相关性分析。我们发现ERT开始年龄与受试者年龄之间存在显著正相关，股骨和腰椎区域的Z值增加。与男性相比，女性患骨质疏松症的风险显著更高。这些结果凸显了ERT对降低LOPD患者骨质疏松进展的重要性。
