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首页> 外文期刊>Journal of orthopaedic science : >Severe skeletal involvement in a patient with Gaucher's disease.
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Severe skeletal involvement in a patient with Gaucher's disease.

机译:高雪氏病患者的严重骨骼受累。

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摘要

Gaucher's disease (GD) is a rare but progressive lysosomal storage disorder caused by beta-glucocerebrosidase deficiency. Accordingly, glucocerebroside accumulates in the reticuloendothelial system and various musculo-skeletal complications (i.e., osteopenia, abnormal bone remodeling, delayed bone healing, pathological fracture, increased propensity for infection, and bleeding ensue due to involvement of the bone marrow). Likewise, in this report, we present a challenging case of GD that was accompanied by several of these skeletal complications including spondylodiscitis.
机译:高雪氏病(GD)是由β-葡萄糖脑苷脂酶缺乏症引起的罕见但进行性溶酶体贮积病。因此,葡糖脑苷脂在网状内皮系统和各种肌肉-骨骼并发症(即,骨质减少,异常的骨骼重塑,延迟的骨愈合,病理性骨折,增加的感染倾向和由于骨髓的介入而引起的出血)中积累。同样,在本报告中,我们介绍了一个具有挑战性的GD病例,并伴有包括脊椎盘炎在内的几种此类骨骼并发症。

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