Imaging and quantifying skeletal involvement in Gaucher disease
Imaging and quantifying skeletal involvement in Gaucher disease
复制标题
DOI：
10.1259/bjr.75.suppl_1.750013
复制
发表时间：
2002-01-01
影响因子：
2.6
通讯作者：
Terk, MR
中科院分区：
文献类型：
--
作者：
Maas, M;Poll, LW;Terk, MR
放射成像用于戈谢病患者评估疾病负担、评估特定骨骼并发症的存在并跟踪治疗反应。 MRI 是目前评估戈谢病骨髓受累情况的最佳技术。戈谢细胞浸润骨髓的特征是在常规 T-1 和 T-2 加权自旋回波序列上出现异常低信号强度，这是由于脂肪骨髓减少而产生高信号强度。酶替代疗法导致戈谢细胞沉积物降解，骨髓脂肪重新转化，从而导致 T-1 加权图像上的信号增加。常规 MRI 还可以检测戈谢病的其他骨骼并发症，包括急性骨梗死、感染和创伤引起的水肿、缺血性坏死、病理性骨折和椎体压缩。传统 MRI 的主要缺点是它不是定量的。定量化学位移成像是评估骨髓最灵敏的定量方法，但尚未广泛使用。基于 MRI 的替代方法包括计算 T-1 弛豫常数和质子光谱。对传统 MRI 检测到的影像变化进行评分可能有助于估计疾病负担和并发症风险。双能 X 射线吸收测定法 (DXA) 对广泛性骨质减少以及延长酶替代疗法引起的骨矿物质密度变化敏感。然而，DXA 对局部变化不敏感，尚不能用于预测这些患者的骨折风险。在开发出理想的定量技术之前，传统 MRI 仍将是评估戈谢病骨骼并发症和监测酶替代疗法反应的最佳诊断方式。
Radiological imaging is used in patients with Gaucher disease to estimate the disease burden, to evaluate the presence of specific skeletal complications and to track response to therapy. MRI is currently the best technique for assessing bone marrow involvement in Gaucher disease. Gaucher cell infiltrated bone marrow is characterized by an abnormal low signal intensity on conventional T-1- and T-2-weighted spin echo sequences, owing to a reduction in fat marrow, which gives a high signal intensity. Enzyme replacement therapy results in a degradation of Gaucher cell deposits with a reconversion of marrow fat and consequently an increased signal on T-1-weighted images. Conventional MRI also detects other skeletal complications in Gaucher disease, including oedema resulting from acute bone infarction, infection and trauma, avascular necrosis, pathological fractures and vertebral compression. The main drawback of conventional MRI is that it is not quantitative. Quantitative chemical shift imaging is the most sensitive quantitative method for evaluating bone marrow but is not widely available, Alternative MRI-based methods include calculation of the T-1 relaxation constant and proton spectroscopy. Scoring of imaging changes detected on conventional MRI may be useful in estimating disease burden and risk of complications. Dual-energy X-ray absorptiometry (DXA) is sensitive to generalized osteopenia and changes in bone mineral density with extended enzyme replacement therapy. However, DXA is insensitive to local changes and cannot yet be used to predict fracture risk in these patients. Until the ideal quantitative technique is developed, conventional MRI will remain the best diagnostic modality for assessing skeletal complications in Gaucher disease and monitoring response to enzyme replacement therapy.