Gaucher disease (GD; OMIM 230800) is a lysosomal storage disorder caused by a deficiency in acid beta-glucosidase as a result of mutation in the GBA gene. Type 1 GD (GD1) is the most common form and its clinical manifestations include severe hematological, visceral and bone disease. The goal of disease-modifying treatments for GD1 is to reduce substrate storage and hence toxicity from the disease. The two common therapeutic routes for managing GD1 are enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). These therapies have shown to improve hematological and visceral aspects of the disease. However, quantitative investigations into how these therapies may help prevent or improve the progression of bone disease is limited. This case involves a patient diagnosed with GD1 in childhood, who began ERT in young adulthood. Following over 20 years of treatment with ERT, the patient switched to SRT. This case report examined the novel application of high-resolution peripheral quantitative computed tomography (HR-pQCT) in a patient who switched from ERT to SRT. Using bone microarchitecture measurements from HR-pQCT, we applied finite element analysis techniques to calculate the failure load which estimates the resistance to fracture. Over the course of one year following the switch from ERT to SRT therapy, failure load improved in the patient's lower limb. In conclusion, failure load can be computed in the short term in a patient who made a switch from ERT to SRT. Further exploration of failure load in study design to look at interventions that impact bone quality in GD may be considered.

高雪氏病（GD; OMIM 230800）是一种溶酶体贮积病，由GBA突变导致酸性β-葡萄糖苷酶缺乏引起基因。1型GD（GD1）是最常见的形式，其临床表现包括严重的血液，内脏和骨骼疾病。GD1的疾病缓解疗法的目标是减少底物的储存，从而减少疾病的毒性。管理GD1的两种常见治疗途径是酶替代疗法（ERT）和底物减少疗法（SRT）。这些疗法已显示可改善该疾病的血液学和内脏方面。然而，关于这些疗法如何有助于预防或改善骨病进展的定量研究是有限的。该病例涉及一名儿童期诊断为GD1的患者，该患者从成年后就开始ERT。经过ERT治疗20多年后，患者转用SRT。该病例报告检查了高分辨率外周定量计算机断层扫描（HR-pQCT）在从ERT改为SRT的患者中的新应用。使用HR-pQCT的骨微体系结构测量结果，我们应用了有限元分析技术来计算破坏载荷，从而估计抗断裂性。从ERT转向SRT治疗后的一年中，患者下肢的失败​​负荷得到改善。总之，可以从短期内计算出从ERT切换到SRT的患者的失败负荷。可以考虑进一步研究设计中的失败负荷，以研究影响GD中骨骼质量的干预措施。我们应用了有限元分析技术来计算破坏载荷，以估计断裂抗力。从ERT转向SRT治疗后的一年中，患者下肢的失败​​负荷得到改善。总之，可以从短期内计算出从ERT切换到SRT的患者的失败负荷。可以考虑在研究设计中进一步探索失效负荷，以研究影响GD中骨骼质量的干预措施。我们应用了有限元分析技术来计算破坏载荷，以估计断裂抗力。从ERT转向SRT治疗后的一年中，患者下肢的失败​​负荷得到改善。总之，可以从短期内计算出从ERT切换到SRT的患者的失败负荷。可以考虑进一步研究设计中的失败负荷，以研究影响GD中骨骼质量的干预措施。