Division of Nephrology and Kidney Center, Kobe University Graduate School of Medicine, Kobe, Japan.
Division of Nephrology and Kidney Center, Kobe University Graduate School of Medicine, Kobe, Japan.
Mol Genet Metab. 2023 Aug;139(4):107634. doi: 10.1016/j.ymgme.2023.107634. Epub 2023 Jun 27.
Fabry disease (FD) is an inherited disorder that causes organ dysfunction. However, only a few studies have reported on bone mineral density (BMD) in FD patients, and the relationship between BMD and clinical factors such as globotriaosylsphingosine (lyso-Gb3) remains unclear. Therefore, the current study sought to investigate BMD in FD patients, the relationship between BMD and lyso-Gb3, and the effects of enzyme replacement therapy (ERT) on changes in BMD and lyso-Gb3.
This single-center, observational study included 15 patients who visited our facility for FD between January 2008 and June 2021. We assessed BMD and clinical characteristics in study patients, including plasma lyso-Gb3 levels, and examined the relationship between BMD and plasma lyso-Gb3 levels, and changes in BMD after starting ERT.
Male patients' BMD had reduced, whereas female patients' BMD was preserved. Male patients had significantly higher plasma lyso-Gb3 levels than female patients. Moreover, plasma lyso-Gb3 levels were found to be significantly related to the lumbar spine and femoral BMD. These were strongly linked with plasma lyso-Gb3 levels in male patients, whereas no strong link was observed in female patients. Furthermore, BMD significantly increased only in male patients although plasma lyso-Gb3 levels significantly decreased by ERT in all patients.
BMD decreased possibly due to Gb3 accumulation, and ERT could increase BMD in male FD patients.
法布瑞病（FD）是一种遗传性疾病，可导致器官功能障碍。然而，仅有少数研究报道了 FD 患者的骨密度（BMD），并且 BMD 与神经酰胺三己糖苷（lyso-Gb3）等临床因素之间的关系尚不清楚。因此，本研究旨在探讨 FD 患者的 BMD、BMD 与 lyso-Gb3 的关系，以及酶替代疗法（ERT）对 BMD 和 lyso-Gb3 变化的影响。
这是一项单中心、观察性研究，纳入了 2008 年 1 月至 2021 年 6 月期间在我院就诊的 15 例 FD 患者。我们评估了研究患者的 BMD 和临床特征，包括血浆 lyso-Gb3 水平，并检查了 BMD 与血浆 lyso-Gb3 水平之间的关系，以及 ERT 开始后 BMD 的变化。
男性患者的 BMD 降低，而女性患者的 BMD 保持不变。男性患者的血浆 lyso-Gb3 水平显著高于女性患者。此外，血浆 lyso-Gb3 水平与腰椎和股骨 BMD 显著相关。在男性患者中，这些与血浆 lyso-Gb3 水平密切相关，而在女性患者中则没有明显关联。此外，尽管所有患者的血浆 lyso-Gb3 水平均显著降低，但仅在男性患者中 BMD 显著增加。
BMD 可能由于 Gb3 积累而降低，ERT 可增加男性 FD 患者的 BMD。
