Multifactorial Impact on Bone Fragility in Gaucher Disease.
Multifactorial Impact on Bone Fragility in Gaucher Disease.
复制标题
戈谢病骨脆性的多因素影响。
DOI：
10.1148/radiol.230140
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发表时间：
2023
期刊：
影响因子：
19.7
通讯作者：
Cifuentes Gaitán K
中科院分区：
文献类型：
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作者：
Cifuentes Gaitán K
编者：我们特别感兴趣地阅读了D 'Amore博士及其同事提出的建议，该建议发表在2023年4月的《放射学》杂志上，将皮质厚度指数纳入常规临床实践，以评估患有这种疾病的患者的骨折风险，因为双能X线吸收测定法不准确（1）。此外，我们理解需要验证这种类型的指数，特别是在无法访问高度复杂的诊断成像中心的地区提高覆盖率。在过去的4年中，我们医院被认为是哥伦比亚博戈塔的参考临床中心，主要基于全身MRI、双能X线吸收测定法和全长站立位X线摄影的常规评价对戈谢病患者进行随访，以客观地证明治疗效果。尽管有文献报道，但我们没有发现任何与脆性骨折相关的骨损害证据。然而，我们知道，这些患者中的大多数具有低骨密度，这可能与患者特异性因素有关（年龄、性别、糖皮质激素使用、特定药物治疗和/或久坐的生活方式），以及戈谢病的其他特定因素，如骨骼受累的严重程度和类型（即轴向、非轴向或混合型）（2，3）。确定皮质厚度指数与骨髓浸润程度的关系是有意义的，包括MRI评分系统，如骨髓负荷评分和Düsseldorf Gaucher评分，以确定是否是骨髓浸润性受累的类型可能与骨折或患者的风险有关-具体因素如年龄增长（3）。此外，遗传学，种族和环境影响可能在决定疾病的严重程度方面发挥作用。我们认为对不同人群进行多中心研究以在全球范围内验证该指数非常重要。
Editor: We read with special interest the recommendation proposed by Dr D’Amore and colleagues, published in the April 2023 issue of Radiology, to include into routine clinical practice the cortical thickness index to evaluate the fracture risk in patients with this disease given the inaccuracy of dual-energy x-ray absorptiometry (1). Additionally, we understand the need to validate this type of index, especially to improve coverage in regions that do not have access to highly complex diagnostic imaging centers. During the last 4 years, our hospital has been considered a reference clinical center in Bogotá, Colombia to perform follow-up in patients with Gaucher disease based predominantly on conventional evaluations with wholebody MRI, dual-energy x-ray absorptiometry, and fulllength standing radiography to demonstrate therapeutic efficacy objectively. Despite the literature, we found no evidence of any bone compromise related to fragility fractures. However, we know that the majority of these patients have low bone mineral density, which may be related to patient-specific factors (age, sex, glucocorticoid use, specific medical therapy, and/or a sedentary lifestyle), and others specific to Gaucher disease such as the severity and the type of skeletal involvement (ie, axial, appendicular, or mixed)(2, 3).It would be of interest to establish the behavior of the cortical thickness index with the degree of bone marrow infiltration, including MRI scoring systems such as bone marrow burden score and the Düsseldorf Gaucher score, to identify whether it is the type of infiltrative involvement of the bone marrow may be related to the risk of fracture or patient-specific factors such as increasing age (3). As well, genetics, ethnicity, and environmental influences may have a role in determining the severity of the disease. We consider it important to perform multicenter studies with different populations to globally validate this index.
Gaucher疾病1型患者的骨骼改善：口服Eliglustat的2期试验。
影响因子：
2.1
作者：
Kamath, Ravi S.;Lukina, Elena;Watman, Nora;Dragosky, Marta;Pastores, Gregory M.;Avila Arreguin, Elsa;Rosenbaum, Hanna;Zimran, Ari;Aguzzi, Rasha;Puga, Ana Cristina;Norfleet, Andrea M.;Peterschmitt, M. Judith;Rosenthal, Daniel I.
通讯作者：
Rosenthal, Daniel I.