肿瘤相关性成人低血磷骨软化症1例报道

目的报道一例肿瘤相关性低磷骨软化症(tumor-induced hypophosphorus osteomalacia,TIO),提高临床医师对本病的认识。方法对该TIO患者的临床表现、实验室检查、影像学、病理检查和治疗随访结果进行分析和总结。结果该病例支持成人低血磷骨软化症诊断,手术切除右下腹包块,病理符合良性磷酸盐尿性间叶肿瘤(PMT),进一步行FGF-23组化染色,显示FGF-23(+)。术后患者血磷快速恢复正常,尿磷降低;给予适当钙剂和维生素D制剂治疗,随访12周,患者全身疼痛完全缓解,步态恢复正常;随访至24周,患者的骨转换指标、血钙磷基本维持正常;随访36周时骨密度恢复正常,获得临床治愈。结论对于无家族史成人发病的低血磷骨软化症应考虑肿瘤相关性骨软化症的可能,手术切除肿瘤是治疗的关键,FGF-23染色阳性证实了对TIO的诊断。

A case report of adult-onset tumor-induced osteomalacia

Objective To report a clinical case of tumor-induced hypophosphorus osteomalacia (TIO) , and to improve clinicians'' understanding of the disease. Methods The clinical manifestations, laboratory, imaging, pathological and treatment follow-up of a TIO patient were analyzed and summarized. Results This case supported the diagnosis of adult hypophosphorus osteomalacia and the right lower abdominal mass was removed by surgical operation. The pathological diagnosis accorded with phosphaturic mesenchymal tumor, FGF-23 staining showed positive. After operation, the levels of blood phosphorus?returned to normal quickly and urinary phosphorus decreased. The patient was treated with appropriate calcium and vitamin D preparations. The pain was completely relieved and the gait returned to normal on 12-week following up. The bone turnover markers, serum calcium and phosphorus were normal on 24-week following up. The bone mineral density was normol and the patient was clinically cured at 36-week. Conclusion An adult patient with hypophosphatemic osteomalacia without family history should be suspected as tumor-induced osteomalacia. Surgical resection of the tumor is the first of choice of treatment. FGF-23 positive confirmed the diagnosis of Tumor-induced osteomalacia.