脾切除术联合伊米苷酶治疗儿童戈谢病一例并文献复习

A Case of Gaucher Disease in the Children Who Accepts the Treatment of Splenectomy and Imiglucerase and Literature Review

摘要: 目的：回顾性分析１例伴骨骼损害、脾脏肿大的戈谢病患儿的临床资料，并查阅、复习相关文献，旨在提高临床医师对戈谢病诊治的认识。方法：回顾性分析青岛大学附属医院血液儿科收治的１例伴骨骼损害、脾脏肿大的戈谢病患儿的临床资料，并查阅相关文献进行总结分析，了解切脾的适应征、评估切脾的风险。结果：行脾切除后，患儿血象较前缓解，骨损害情况未见改善；行酶替代治疗后，血象明显好转，骨损害程度较前减轻，患儿肝脏回缩至正常大小。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，及时的酶替代治疗可避免切脾，未行酶替代治疗的脾功能亢进的患儿行脾切除术后可缓解血象。

Abstract: Objective: The clinical data of a case of Gaucher disease with bone damage and splenomegaly were retrospectively analyzed, and relevant literatures were reviewed, in order to improve clinicians' understanding of the diagnosis and treatment of Gaucher disease. Methods: The clinical data of a case of Gaucher disease with bone damage and splenomegaly admitted to the hematology pediatrics of children’s medical center in Affiliated Hospital of Qingdao University were retrospectively analyzed, and the relevant literature was reviewed for summary and analysis, so as to understand the indications of splenectomy and evaluate the risk of splenectomy. Results: After splenectomy, the hemogram of the children was relieved, but the condition of bone was not improved; after accepting the enzyme replacement therapy, the hemogram of the children was obviously improved, the degree of the bone damage was reduced, and the liver retracted to the normal size. Conclusion: After the diagnosis of Gaucher disease, early enzyme replacement therapy is the key to the treatment of Gaucher disease. Timely enzyme replacement therapy can avoid the splenectomy. The hemogram of children with hypersplenism without enzyme replacement therapy can be relieved after splenectomy.