Debrach Anne-Cécile, Coen Matteo, De Seigneux Sophie, Saiji Essia, Boudabbous Sana, Willi Jean-Pierre, Serratrice Jacques, Genevay Stéphane, Biver Emmanuel
Division of Bone Diseases, Department of Medicine, Geneva University Hospitals, Geneva, Switzerland.
Division of General Internal Medicine, Department of Medicine, University Hospitals, Geneva, Switzerland.
Calcif Tissue Int. 2025 Jan 31;116(1):36. doi: 10.1007/s00223-025-01344-2.
Tumor-induced osteomalacia (TIO) is a rare acquired paraneoplastic syndrome caused by a mesenchymal tumor secreting a phosphaturic hormone called FGF23. Patients present with bone pain, fragility fractures and muscle weakness. Biochemical results show hypophosphatemia, raised serum alkaline phosphatase and reduced calcitriol. We report the case of a 44-year-old man who presented to the Emergency Departement with acute low back pain revealing extensive subchondral fractures between D2 and L5. Investigations showed partial Fanconi syndrome; nevertheless, he had profound hypophosphatemia, low 1,25-OH vitamin D and raised FGF23 levels suggesting a diagnosis of tumor-induced osteomalacia. A subcutaneous lesion was identified in the left leg on a PET-CT initially performed to rule out malignancy in the context of Fanconi syndrome. Tumorectomy enabled complete resolution of the electrolyte disturbances within days of surgery. This case shows that TIO may present as partial Fanconi syndrome, highlighting the importance of testing other electrolytes in cases of hypophosphatemia and the need to look for TIO in cases of partial Fanconi with severe hypophosphatemia.
肿瘤诱导的骨软化症(TIO)是一种罕见的获得性副肿瘤综合征,由分泌一种名为FGF23的排磷激素的间充质肿瘤引起。患者表现为骨痛、脆性骨折和肌肉无力。生化检查结果显示低磷血症、血清碱性磷酸酶升高和骨化三醇降低。我们报告了一例44岁男性患者,他因急性腰痛就诊于急诊科,检查发现D2至L5之间存在广泛的软骨下骨折。检查显示为部分范科尼综合征;然而,他有严重的低磷血症、低1,25-二羟维生素D和升高的FGF23水平,提示肿瘤诱导的骨软化症诊断。最初为排除范科尼综合征背景下的恶性肿瘤而进行的PET-CT检查发现左腿有一个皮下病变。肿瘤切除术后数天内电解质紊乱完全得到缓解。该病例表明,TIO可能表现为部分范科尼综合征,强调了在低磷血症病例中检测其他电解质的重要性,以及在严重低磷血症的部分范科尼综合征病例中寻找TIO的必要性。