畸形性骨炎八例的临床诊治分析

Diagnosis and treatment for 8 cases with Paget disease

目的对8例畸形性骨炎患者的临床诊治情况进行分析,旨在提高对该病的认识。方法确诊的畸形性骨炎患者8例,比较其临床表现、X线片特征、骨转换生化指标及用二膦酸盐治疗的情况。结果男5例,女3例,年龄46～76岁,平均年龄为(60.0±12.2)岁。病程1～15年,平均病程为(5.1±5.0)年。临床症状表现为受累骨骼疼痛7例,其中2例伴小腿皮温升高。病变范围:单骨性损害3例,多处骨骼受累4例,1例未能明确。病变累及部位以骨盆、股骨和脊柱最常见,其次为头颅、胫骨、腓骨和肱骨。X线片显示受损骨的骨小梁结构粗大和紊乱、皮质显著增厚、髓腔缩小及骨骼变形等典型的Paget’s骨损害。骨扫描检查显示,受累骨骼的核素异常浓聚。8例患者的血清碱性磷酸酶(ALP)水平为93～1366U/L,中位数为326U/L,其中1例患者的血清ALP水平在正常范围内。7例患者予二膦酸盐治疗,3个月后疼痛缓解,活动功能改善,血清ALP水平下降显著,疗效明显。结论畸形性骨炎在我国罕见,常被误诊。X线摄片和骨核素扫描等影像学检查的表现结合骨转换生化指标的显著改变是诊断的重要依据,经静脉途径应用二膦酸盐治疗的疗效显著。

Objective To retrospectively analyze the diagnosis and treatment for 8 patients with Paget disease, so as to enhance the understanding of the disease. Methods Eight patients were diagnosed as Paget disease and were enrolled in this study. The clinical manifestations, X-ray features, biochemical marker of bone turnover and bisphosphonates treatment were evaluated. Results There were 5 males and 3 females with an average age of （60.0 ± 12.2） years （range 46 - 76 years）. The average course of disease was （5.1 ± 5.0） years （range 1 - 15 years）. Pain, deformity of the involved bones were seen in seven cases, and local skin temperature increase was found in two of them. There were 3 patients with single bone lesion and 4 patients with multiple bone lesions, but one patient could not be identified. The most common damage sites were pelvis, femur and spine, followed by skull, tibia, fibula, and humerus. X-ray film showed the classic features of Paget impaired bone, including enlarged disordered structure of trabecular bone, cortical thickening, shrinking medullary cavity and skeletal deformation. Bone scan showed increased uptake of 99mTO-Bisphosphonate in involved bones. The level of serum alkaline phosphatase （ALP） ranged from 93 to 1 366 U/L （median 326 U/L） and only one patient had a normal ALP level before treatment. Seven patients were treated by bisphosphonates. Pain was relieved, movement function was improved, ALP level was significantly decreased and therapeutic effect was obvious 3 months after the treatment. Conclusion Paget disease is rare in China and is often misdiagnosed. The remarkable changes of biochemical marker of bone turnover and radiological features （X-ray and radioisotope scanning） can provide important evidence for diagnosis. Bisphosphonates given by vein is an effective therapy for Paget disease.