Evidence-based recommendations for monitoring bone disease and the response to enzyme replacement therapy in Gaucher patients
Evidence-based recommendations for monitoring bone disease and the response to enzyme replacement therapy in Gaucher patients
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DOI：
10.1185/030079906x104623
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发表时间：
2006-06-01
影响因子：
2.3
通讯作者：
Maas, Mario
中科院分区：
文献类型：
--
作者：
Dahl, Stephan vom;Poll, Ludger;Maas, Mario
背景：骨病是戈谢病的严重并发症。如果不及时治疗，可能会导致疼痛、永久性骨损伤和残疾。酶替代疗法可以逆转戈谢骨病的许多临床症状，但早期评估和治疗以及定期监测对于优化结果至关重要。范围：2005 年 9 月，一组欧洲专家开会回顾当前知识，确定戈谢骨病监测和酶替代疗法反应方面的最佳实践和未满足的需求。方法：对同行评审文献（无日期限制）进行 Medline 检索，并补充小组成员认为相关的其他信息，以进一步讨论。结果和结论：该小组的建议包括：目前使用的生化骨标志物在临床上不实用或不可靠； X 线平扫不应成为评估骨病的唯一方法； MRI 是监测戈谢细胞骨髓浸润最灵敏的方法；在常规临床实践中评估骨髓浸润的半定量方法应使用现成的技术，包括评估腰椎和股骨的戈谢细胞浸润，并验证评估者间的可靠性并与其他方法进行比较；戈谢病患者的治疗需要采用多学科方法；所有戈谢病患者均应至少每两年接受一次针对骨病的全面初步放射学评估和持续放射学监测。
Background: Bone disease is a serious complication of Gaucher disease. Untreated, it can result in pain, permanent bone damage and disability. Enzyme replacement therapy reverses many of the clinical signs of Gaucher bone disease but early assessment and treatment, and regular monitoring, are essential in optimising outcomes.Scope: In September 2005, a group of European experts met to review current knowledge and identify best practice and unmet needs in the monitoring of Gaucher bone disease and the response to enzyme replacement therapy.Methods: Medline searches of peer-reviewed literature ( no date restrictions) were conducted and supplemented by additional information considered relevant by panellists to furthering discussions.Findings and conclusions: The group's recommendations included: currently used biochemical bone markers are not clinically practical or reliable; plain X-rays should not be the sole method of assessing bone disease; MRI is the most sensitive method for monitoring bone marrow infiltration by Gaucher cells; semi-quantitative methods for assessing bone marrow infiltration in routine clinical practice should use readily available technology, include an assessment of Gaucher cell infiltration in the lumbar spine and femur, and be validated for inter-rater reliability and in comparison to other methods; a multidisciplinary approach is required for the treatment of Gaucher patients; all Gaucher patients should receive a comprehensive initial radiologic evaluation for bone disease and ongoing radiological monitoring at least once every 2 years.