成人低血磷性骨软化病1例并文献复习

目的 分析低血磷性骨软化症的病因、发病机制、诊断标准与治疗.方法 采用病例回顾的方式,讨论低血磷性骨软化症临床和影像学特征.结果 该患者经过详细检查,并未发现肿瘤.该低血磷性骨软化症患者的临床和影像学特征:(1)骨痛、骨畸形、多发骨折、肌无力;(2)显著低血磷、高尿磷,碱性磷酸酶明显增高,血钙正常或偏低;(3)X线表现为全身普遍性骨密度降低、骨畸形和假骨折.(4)中性磷合剂及活性D治疗效果显著,常规剂量维生素D无效.结论 成人发作的低血磷性骨软化症是罕见代谢性骨病,该病容易被误诊且致残率高,临床医生应进一步提高对该疾病的认识.

Adult-onset hypophosphatemic osteomalacia:one case report and review of the literature

Objective To analyse the etiology,pathogenesis,criteria of diagnosis and therapy for hypophosphatemic osteomalacia. Methods We retrospectively reported the case of a middle-aged man with hypophosphatemic osteomalacia and discussed the clinical and imageological features on this condition. Results Despite detailed research, no tumors were found. The authors summarized the clinical and imageological features: (1) The patient had the symptoms of bone pain, bone deformity, multiple fractures, severe muscle weakness; (2) The patient was characterized by hypophosphatemia and hyperphosphaturia, increased levels of alkaline phosphates, blood calcium reduction or normality; (3) Imageology shown decreased compacta, bone deformity, pseudo fracture;(4)The patient was treated with oral supplementation with phosphate and 1α, 25-(OH)_2 vitamin D_3.Conclusion Adult-onset hypophosphatemic osteomalacia is a rare disease, the clinicians should emphasize the importance of recognition of this disease as it is easy to be misdiagnosed and its high disability rate.