戈谢病伴脊柱畸形一例并文献复习

A Case of Gaucher Disease Accompanied with the Spinal Deformity and Literature Review

摘要: 目的：回顾性分析1例伴脊柱畸形的儿童戈谢病患者的临床资料，并查阅、复习相关文献，旨在提高临床医师对戈谢病骨骼损害的认识。方法：回顾性分析青岛大学附属医院儿童血液肿瘤科收治的1例伴脊柱畸形的儿童戈谢病患者的临床资料，并查阅相关文献进行总结分析，提高对戈谢病骨骼并发症的认识。结果：本研究中该患儿存在脊柱畸形且伴有膝关节疼痛的症状。磁共振检查结果提示股骨远端存在典型的烧瓶样改变，骨损害情况严重。经酶替代治疗后膝关节疼痛症状减轻，磁共振检查结果提示骨损害程度未见进一步加重。结论：确诊戈谢病之后及早进行酶替代治疗是治疗戈谢病的关键，可预防骨骼并发症或避免骨骼损害程度进一步加重。

Abstract: Objective: To review and analyse the clinical data of a case of gaucher disease in children with spine deformity, seeking and reviewing related literatures in order to improve the understanding of the bone lesion complications of gaucher disease in doctors. Methods: To review and analyse the clinical data of a case of gaucher disease in children with spine deformity, which was admitted to the Pediatric Hematology-Oncology Department of the Affiliated Hospital of Qingdao University, seeking and reviewing related literatures to make a summary, improving the understanding of the bone lesion of gaucher disease in doctors. Results: The child has the spine deformity and the symptoms of knee joint pain. MRI showed typical changes in the distal femur. It seems like the flask. The bone damage is serious. After receiving the enzyme replacement treatment, the pain of the knee joint was relieved and MRI showed that the bone damage is not further aggravated. Conclusion: After the diagnosis of gaucher disease, early enzyme replacement therapy is the key to the treatment of gaucher disease, it can prevent the bone complications and avoid the further development of bone damage.