Lollert André, Laudemann Katharina, Mengel Eugen, Hoffmann Christian, Moos Larissa, Reinke Jörg, Brixius-Huth Miriam, Hennermann Julia B, Düber Christoph, Staatz Gundula
Department of Diagnostic and Interventional Radiology, Section of Pediatric Radiology, Medical Center of the Johannes Gutenberg University, Mainz, Germany.
Center of Pediatrics and Adolescent Medicine, Villa Metabolica, Medical Center of the Johannes Gutenberg University, Mainz, Germany.
Klin Padiatr. 2019 Mar;231(2):52-59. doi: 10.1055/a-0788-8795. Epub 2018 Nov 27.
We retrospectively assessed bone and visceral manifestations in patients with Gaucher disease type 1 (GD1) with whole-body magnetic resonance imaging (WB-MRI) to determine the effects of different timing in initiating long-term enzyme replacement therapy.
In 17 patients with GD1, we performed 2 WB-MRI examinations at a median interval of 13 months. Patients had received enzyme replacement therapy with alglucerase/imiglucerase for a median of 13 years prior to the first examination. MRI results were retrospectively stratified based on treatment initiation into 2 groups: "early" (age ≤12 years, median 5 years) and "late" (during adulthood, median 32 years). We evaluated occurrence of irreversible avascular necroses (AVN) and applied several semi-quantitative scores, including the Bone-Marrow-Burden (BMB) score, the Düsseldorf-Gaucher score (DGS), the Vertebra-Disc-Ratio (VDR), and the Gaucher disease type 1 Severity Scoring System (GD-DS3).
MRI assessments showed no AVN in the "early" group. AVN were observed in 2 patients of the "late" group; one also had a splenic Gaucheroma. The follow-up examinations showed slight improvements in the BMB-score, DGS, and VDR, with similar tendencies in both treatment groups. The GD-DS3 score only improved in "late" group.
This retrospective study supported the ongoing clinical value of enzyme replacement therapy with alglucerase/imiglucerase, as WB-MRI-based scores stayed constant or slightly improved even after long-term treatment. Secondary complications were only observed in the late treatment group. Our results suggest that "early initiation" of enzyme replacement therapy may protect the bone.
我们采用全身磁共振成像（WB-MRI）对1型戈谢病（GD1）患者的骨骼和内脏表现进行回顾性评估，以确定开始长期酶替代治疗的不同时机所产生的影响。
对17例GD1患者进行了2次WB-MRI检查，中位间隔时间为13个月。在首次检查前，患者接受阿葡糖脑苷酶/伊米苷酶酶替代治疗的中位时间为13年。根据治疗开始时间，将MRI结果回顾性分为2组：“早期”（年龄≤12岁，中位年龄5岁）和“晚期”（成年期，中位年龄32岁）。我们评估了不可逆性骨坏死（AVN）的发生情况，并应用了几种半定量评分，包括骨髓负担（BMB）评分、杜塞尔多夫戈谢病评分（DGS）、椎体间盘比值（VDR）和1型戈谢病严重程度评分系统（GD-DS3）。
MRI评估显示“早期”组未出现AVN。“晚期”组有2例患者出现AVN；其中1例还患有脾脏戈谢瘤。随访检查显示，BMB评分、DGS和VDR略有改善，两个治疗组的趋势相似。GD-DS3评分仅在“晚期”组有所改善。
这项回顾性研究支持了阿葡糖脑苷酶/伊米苷酶酶替代治疗的持续临床价值，因为即使经过长期治疗，基于WB-MRI的评分仍保持不变或略有改善。继发性并发症仅在晚期治疗组中观察到。我们的结果表明，酶替代治疗的“早期启动”可能对骨骼起到保护作用。
