以骨质破坏为主要表现的戈谢病1例报告及文献复习

doi:10.13481/j.1671-587x.20190239

摘要/Abstract

摘要： 目的：分析骨破坏为主要表现的戈谢病患者的临床特点，为其临床诊治提供参考。方法：总结1例以骨破坏为主要表现的戈谢病病例的临床资料，结合相关文献复习，分析戈谢病患者临床表现、并发症、治疗方案、预后及最新相关研究进展。结果：患者，男性，49岁，因"右大腿间断性疼痛2年"入院。患者有戈谢病家族史，患者父母近亲结婚（表兄妹），7年前确诊。入院后结合患者病史、临床表现、家族史和各项辅助检查结果，诊断为戈谢病、右股骨骨质破坏和脾功能亢进。患者右侧全股骨呈毁损性破坏，大腿疼痛剧烈，患者无法承担长期酶替代治疗费用，拟行病损切除术。由于患者伴有脾功能亢进、血小板减少等手术禁忌证，先后2次行脾动脉部分栓塞治疗（第1次栓塞体积为25%，第2次栓塞体积为35%）。脾栓塞术后1周复查血常规，脾功能亢进明显改善，血小板计数87×10⁹L^-1、血红蛋白91 g·L^-1，拟行手术治疗。但是患肢疼痛症状缓解，患者放弃手术治疗。出院建议避免外伤、减少负重，预防病理性骨折，定期随访。结论：近亲结婚致戈谢病。结合患者家族史、临床表现、各项辅助检查可初步诊断，根据葡萄糖脑苷脂酶活性检测可确诊。Ⅰ型戈谢病患者可行酶替代治疗，未行酶替代治疗、病史长者可表现为严重骨质破坏、脾功能亢进，需行手术等对症治疗。

关键词: 戈谢病, 骨质破坏, 脾功能亢进, 部分脾动脉栓塞, 酶替代治疗

Abstract: Objective: To analyze the clinical characteristics of a patient with of Gaucher's disease with bone destruction as the main performance, and to provide the reference for its clinical diagnosis and treatment.Methods: The clinical data of a case of Gaucher's disease with bone destruction as the main performance was summarized.Combined with the related literature review, the clinical performance, complications, treatment plan, prognosis and the latest relevant research progress of the patients with Gaucher's disease were analyzed.Results: A male patient, 49 years old, was admitted to the hospital due to intermittent right thigh pain for two years, with family history of Gaucher's disease and his parents were consanguineous marriage.The patient was diagnosed as Gaucher's disease 7 years ago.Combined with the patient's history, clinical performance, family history and various auxiliary examination results, the patient was diagnosed as Gaucher's disease, right femur bone destruction, hypersplenism.The patient's right femur was extensively damaged, and the right thigh was severely painful.The patient could not afford the long-term enzyme replacement treatment and planned to have a lesion resection.Because hypersplenism and thrombocytopenia were contraindication for surgery, partial embolization of the splenic artery was performed twice (the first embolization volume was 25%, and the second embolization volume was 35%).Blood cell count was performed one week after spleen embolization, which was significantly improved: platelet count 87×10⁹L^-1, hemoglobin 91 g·L^-1, and surgical treatment was planned.However, the pain was relieved and the patient gave up surgery.The patient was recommended to avoid injury, reduce weight-bearing,and prevent the pathological fractures;the patient was followed up regularly.Conclusion: The incidence of Gaucher's disease is increased in consanguineous marriage.A preliminary diagnosis was made based on the family history, clinical performance, and various auxiliary examinations, and further confirmed according to the detection of glucocerebrosidase activity.The patients with type Ⅰ Gaucher's disease are eligible for enzyme replacement therapy.Without enzyme replacement therapy, the patients with chronic history will be concurrent bone destruction, hypersplenism, need symptomatic treatment such as surgery.

Key words: Gaucher's disease, bone destruction, hypersplenism, partial splenic artery embolization, enzyme replacement therapy

中图分类号:

R589

张登伟, 刘鹏, 王兆麟, 牟建辉, 孙东, 赵广胜, 刘祥, 王艺澎. 以骨质破坏为主要表现的戈谢病1例报告及文献复习[J]. 吉林大学学报(医学版), 2019, 45(02): 430-434.

ZHANG Dengwei, LIU Peng, WANG Zhaolin, MOU Jianhui, SUN Dong, ZHAO Guangsheng, LIU Xiang, WANG Yipeng. Gaucher's disease with bone destruction as main performance: A case report and literature review[J]. Journal of Jilin University(Medicine Edition), 2019, 45(02): 430-434.

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