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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 effects of hypophosphatemia osteosarcoma in rare metabolic osteopathies and to provide reference for the diagnosis of hypophosphatemia osteomalacia and to reduce misdiagnosis and missed diagnosis. Methods A retrospective analysis of 7 patients with hypophosphatemia in our hospital who were diagnosed and treated in our hospital from 2000 to 2013 was conducted to analyze their clinical manifestations, auxiliary examinations and curative effects, and to summarize their similarities. Results 7 common features: (1) due to the early symptoms of non-specific, were misdiagnosed to varying degrees, the average misdiagnosis (1.2 ± 0.5) years; (2) the symptoms manifested as systemic multiple unexplained bone pain, muscle weakness, may be associated with multiple Fractures, and even bone deformities; (3) laboratory examination showed significant hypophosphatemia, but serum potassium is normal, the tumor caused by the examination of patients with SPECT examination can be found pathogenic tumors; (4) after the diagnosis of sporadic Hypophosphatemic osteomalacia were given neutral phosphate mixture, drug-induced hypophosphatemic osteomalacia were discontinued phosphorus, tumor-associated osteopelacia (tumor-induced osteomalacia, TIO) surgery to remove the tumor After the blood phosphorus levels were increased, the disease was significantly improved, the prognosis is good. Conclusions Hypophosphatemic osteomalacia usually presents with hypophosphatemia, complicated with multiple unknown causes of bone pain, muscle weakness, complicated with multiple fractures and even bone deformity. Clinicians should further raise their awareness of the disease through laboratory and imaging studies to increase the rate of diagnosis and reduce misdiagnosis and missed diagnosis. For the diagnosis of the case to find the cause, given appropriate treatment, the patient’s condition can be a considerable degree of improvement.