散发性低磷性骨软化症5例误诊临床分析  

Clinical analysis of 5 misdiagnosed cases of sporadic hypophosphatemic osteomalacia

作　　者：吴友伟[1,2] 柯耀华[1] 章振林[1] 

机构地区：[1]上海交通大学附属第六人民医院骨质疏松与骨病科,骨代谢病和遗传研究室,上海200233 [2]陕西省人民医院

出　　处：《中国骨质疏松杂志》2010年第10期758-760,785,共4页Chinese Journal of Osteoporosis

基　　金：国家自然科学基金资助项目(30771019;30570819;30800387);上海市优秀学科带头人计划(08XD1403000)

摘　　要：目的通过对少见疾病散发性低磷性骨软化症(sporadic hypophosphatemic rickets)误诊原因分析,旨在提高临床对其诊治水平。方法回顾性分析本院收治的5例散发性低磷性骨软化症的临床资料,包括临床表现、误诊情况、实验室检查以及诊治转归等情况。结果 5例患者中男4例、女1例,初诊分别误诊为原发性骨质疏松症、腰椎间盘突出症、强直性脊柱炎、无菌性股骨头坏死和肿瘤骨转移。临床表现主要为骨痛、骨折、行动困难等。5例患者显示低磷血症和高碱性磷酸酶水平。确诊散发性低磷性骨软化症前,治疗效果不佳,确诊后,经药物治疗病情显著改善。结论临床上对散发性低磷性骨软化症容易误诊为原发性骨质疏松症等以骨痛、骨折为临床表现的疾病,结合其实验室生化检查及影像学特点,可与常见病相鉴别。Objective To improve the clinical diagnosis and treatment level of the sporadic hypophosphatemic osteomalacia disease through the analysis of misdiagnosed cases of the rare disease. Methods The clinical data of 5 sporadic hypophosphatemic osteomalaeia patients were retrospectively analyzed, including clinical presentation, misdiagnosed condition, laboratory examination, and prognosis. Results The 5 patients （4 males and 1 female） were initially diagnosed as primary osteoporosis, lumbar intervertebral disc protrusion （LIDP） , ankylosing spondylitis （AS）, aseptic necrosis of the femoral head （ANFH） , and skeletal metastasis of cancer, respectively. The clinical presentations were mainly bone pain, bone fracture, moving difficulty. All the 5 patients presented with hypophosphatemia and increased alkaline phosphatase. The prior treatment before the diagnosis of the sporadic hypophosphatemic osteomalacia was not effective. However, the condition of patients was significantly ameliorated with drug therapy after the identification of the sporadic hypophosphatemic rickets disease. Conclusions Sporadic hypophosphatemie osteomalacia disease was usually misdiagnosed in clinic to be primary osteoporosis or other disease presented mainly with bone pain and fracture. It could be distinguished with other common diseases by the combined analysis of the laboratory examination and image features.

关 键 词：骨软化症 低磷血症 临床特点 

分 类 号：R589.5[医药卫生—内分泌]