低血磷性骨软化症七例报告

Hypophosphatemic osteomalacia: seven cases report

目的通过分析罕见代谢性骨病低血磷性骨软化症的临床表现、辅助检查与疗效,对低血磷性骨软化症诊断提供参考,减少误诊和漏诊。方法回顾性分析2000年至2013年于我院诊治的7例"低血磷性骨软化症"患者,对其临床表现、辅助检查情况和疗效特点进行分析,并归纳总结其共同点。结果 7例共同特点:(1)因早期症状无特异性,均被不同程度误诊,平均误诊(1.2±0.5)年;(2)症状表现为全身多发不明原因骨痛、肌无力,可伴多发骨折,甚至骨畸形;(3)实验室检查可见显著低血磷,但血钾正常,肿瘤致该病患者经查体结合SPECT检查可发现致病肿瘤;(4)在确诊后,对散发性低血磷性骨软化症者给予中性磷合剂、药物性低血磷性骨软化症者停药后补磷、肿瘤相关性低磷性骨软化症(tumor-induced osteomalacia,TIO)手术去除肿瘤后,血磷水平均上升,病情明显改善,预后较好。结论低血磷性骨软化症者常表现为低血磷,并伴全身多发不明原因骨痛、肌无力,可伴多发骨折,甚至骨畸形。临床医生应进一步提高对该疾病的认识,通过实验室以及影像学检查,可提高确诊率,减少误诊和漏诊。对于确诊的病例找到病因后,给予适当治疗,患者的病情可得到相当程度的改善。

Objective To analyze the clinical manifestations, auxiliary examinations and curative results of a rare metabolic bone disease, hypophosphatemic osteomalacia （ HO ） and to provide a reference for the diagnosis of HO so as to reduce the erroneous diagnosis and missed diagnosis.Methods The clinical data of 7 patients with HO who were diagnosed and treated from 2000 to 2013 were retrospectively analyzed. Their clinical manifestations, auxiliary examinations and curative results were analyzed, and the common points were summarized.Results The common characteristics of the 7 patients were stated as following. （ 1 ） Since the early symptoms were not speciifc, it was easy to be misdiagnosed to different degrees for a mean period of （ 1.2±0.5 ） years. （ 2 ） The symptoms were whole body bone pain caused by unknown factors, muscle weakness, multiple fractures and even bone deformities. （ 3 ） Laboratory tests showed severe hyperphosphatemia, but the concentrations of K in blood were normal. Causative tumors could be detected by physical examination and single photonemission-computed tomography （ SPECT ）. （ 4 ） When the diagnosis was confirmed, neutral supplementation with phosphate was given to the patients with sporadic HO and phosphorus to the patients with drug-induced HO and tumor resection was performed on the patients with tumor-induced osteomalacia （ TIO ）. The concentration of P in blood was increased. The patients showed signiifcant improvement and their prognoses were relatively good.Conclusions Hypophosphatemia accompanied by whole body bone pain caused by unknown factors, muscle weakness, multiple fractures and even bone deformities is commonly seen in the patients with HO. Clinicians should further improve their understanding of this disease. The correct diagnosis rate can be improved and the erroneous diagnosis and missed diagnosis can be reduced based on the laboratory tests and radiological examinations. Once the cause is found in the patients whose diagnosis is conifrmed, proper treatment should be performed and the patients will show certain improvement.