Laudemann K, Moos L, Mengel K E, Lollert A, Reinke J, Brixius-Huth M, Wagner D, Düber C, Staatz G
Section of Pediatric Radiology, Department of Diagnostic and Interventional Radiology, University Medical Center of the Johannes Gutenberg University, Mainz, Germany.
Clinic for Metabolic Diseases, University Medical Center of the Johannes Gutenberg University, Mainz, Germany.
Rofo. 2015 Dec;187(12):1093-8. doi: 10.1055/s-0035-1553362. Epub 2015 Jul 22.
To evaluate whole-body magnetic resonance imaging (WB-MRI) for the assessment of bone marrow infiltration in patients with confirmed Gaucher disease type 1 under long-term enzyme replacement therapy (ERT).
This retrospective data analysis included 38 patients in two subgroups. Group A: 10 females, 9 males, 15-29 years, mean age 22 years and Group B: 11 females, 8 males, 29-77 years, mean age 49 years, all treated with alglucerase or imiglucerase for at least 12.5 years. Whole-body MRI was carried out in all patients using a standard MRI protocol. Two radiologists assessed all MR images retrospectively with the use of three different MRI score systems: The bone marrow burden (BMB) score, the Düsseldorf-Gaucher score (DGS) and the vertebra disc ratio (VDR). As a clinical component, severity score index type 1 (GD-DS3) was determined.
In both groups the MR scores showed low to moderate pathologic levels but no statistically significant difference was found between both groups. The median scores in group A/group B were 7.00/9.00 for the BMB score (p=0.07), 4.00/3.00 for the DGS score (p=0.062) and 1.54/1.62 for the VDR score (p=0.267). The GD-DS3 score was statistically significantly different between both groups (1.6/3.9, p=0.000) and osseous Gaucher disease complications were only found in group B.
Bone marrow involvement and typical clinical manifestations are reduced to a minimum, when ERT starts immediately after the confirmed diagnosis of Gaucher disease type 1. The applied MR scores are useful markers to control bone marrow infiltration under enzyme replacement therapy in older patients. Pathologic MR scores in young patients may reflect postponed fat conversion of the juvenile bone marrow. This issue has to be examined in further studies.
Whole-body MRI is valuable for the staging of Gaucher disease type 1. Osseous complications are reduced to a minimum in early treated patients. MR score systems have to be adjusted in young Gaucher patients.
评估全身磁共振成像（WB-MRI）在长期酶替代疗法（ERT）下确诊的1型戈谢病患者骨髓浸润评估中的应用。
这项回顾性数据分析包括38例患者，分为两个亚组。A组：10名女性，9名男性，年龄15 - 29岁，平均年龄22岁；B组：11名女性，8名男性，年龄29 - 77岁，平均年龄49岁，所有患者均接受阿糖苷酶或伊米苷酶治疗至少12.5年。所有患者均采用标准MRI方案进行全身MRI检查。两名放射科医生使用三种不同的MRI评分系统对所有MR图像进行回顾性评估：骨髓负担（BMB）评分、杜塞尔多夫-戈谢评分（DGS）和椎间盘比率（VDR）。作为临床指标，确定1型严重程度评分指数（GD-DS3）。
两组的MR评分均显示为低至中度病理水平，但两组之间未发现统计学上的显著差异。A组/B组的BMB评分中位数分别为7.00/9.00（p = 0.07），DGS评分为4.00/3.00（p = 0.062），VDR评分为1.54/1.62（p = 0.267）。两组之间的GD-DS3评分在统计学上有显著差异（1.6/3.9，p = 0.000），且骨戈谢病并发症仅在B组中发现。
在确诊1型戈谢病后立即开始ERT时，骨髓受累及典型临床表现可降至最低。所应用的MR评分是老年患者酶替代治疗下控制骨髓浸润的有用指标。年轻患者的病理MR评分可能反映了青少年骨髓脂肪转化的延迟。这个问题有待进一步研究探讨。
全身MRI对1型戈谢病的分期有重要价值。早期治疗的患者骨并发症降至最低。年轻戈谢病患者的MR评分系统需要调整。
