儿童戈谢病骨损害的临床特征及治疗分析

The Clinical Characteristics and Treatment Analysis of Bone Damage in Children with Gaucher Disease

摘要: 目的：探讨伴有骨损害的儿童戈谢病患者的临床特征及治疗情况，提高对儿童戈谢病骨并发症的认识。方法：回顾性分析青岛大学附属医院自2000年3月至2021年3月收治的8例伴骨损害的儿童戈谢病患者的临床资料，讨论其临床特征及治疗情况。结果：8例戈谢病患者骨损害的临床表现多样，其中5例伴有骨痛症状，1例出现骨质疏松且存在脆性骨折史，1例儿童股骨骨质密度不均匀；4例患者确诊后即进行酶替代治疗，其中1例进行酶替代治疗半年后因经济原因停药4年后恢复酶替代治疗；1例确诊后间隔2月开始进行酶替代治疗；1例确诊后半年进行酶替代治疗；1例确诊后1年进行酶替代治疗；1例确诊后3年进行酶替代治疗。对8例患者酶替代治疗前后的血红蛋白及血小板的变化进行分析，数据分析发现治疗前血红蛋白组与治疗后血红蛋白组的差异、治疗前血小板组与治疗后血小板组的差异均具有统计学意义。结论：戈谢病骨损害的临床表现多样，常见的临床表现有骨痛、骨质疏松、骨折、骨坏死、骨畸形。酶替代疗法可以避免骨骼损害情况进一步加重，有助于恢复血红蛋白及血小板水平，是治疗戈谢病的关键。针对伴骨损害的戈谢病患者，临床医师可结合患者自身病情特点建议进行个体化治疗，必要时可进行骨科手术治疗。

Abstract: Objective: To investigate the clinical characteristics and treatment of gaucher disease in children with bone damage, and to improve the understanding of bone complications of gaucher disease in children. Methods: The clinical data of 8 children with gaucher disease with bone damage admitted to the affiliated hospital of Qingdao University from March 2000 to March 2021 were retrospectively analyzed, and their clinical characteristics and treatment were discussed. Results: The clinical manifestations of bone damage were varied in 8 gaucher disease patients, including 5 patients with bone pain, 1 patient with osteoporosis and brittle fracture history, and 1 child with uneven femoral bone density. Four patients received enzyme replacement therapy immediately after diagnosis, one of them discontinued the enzyme replacement therapy six months later for economic reasons, and resumed enzyme replacement therapy after 4 years of discontinuation.1 case received enzyme replacement therapy 2 months after diagnosis, 1 case received enzyme replacement therapy 6 months after diagnosis, 1 case received enzyme replacement therapy 1 year after diagnosis, one patient underwent enzyme replacement therapy 3 years after diagnosis. The changes of hemoglobin and platelet in 8 patients before and after enzyme replacement therapy were analyzed. Data analysis showed that the difference between the hemoglobin group before treatment and the hemoglobin group after treatment were statistically significant, the difference between the platelet group before treatment and the platelet group after treatment were statistically significant. Conclusion: The clinical manifestations of bone damage in gaucher disease are diverse, the common clinical manifestations include bone pain, osteoporosis, fracture, osteonecrosis, bone deformity. Enzyme replacement therapy can avoid further aggravation of bone damage and help to restore hemoglobin and platelet levels, which is the key to the treatment of gaucher disease. For gaucher disease patients with bone damage, clinicians can recommend individualized treatment based on the characteristics of patients’ own conditions, and orthopedic surgery can be performed when necessary.