Unusual Association of Partial Fanconi Syndrome and Tumor-Induced Osteomalacia Revealed by Multiple Vertebral Fractures.

IF 3.2 3区 医学 Q2 ENDOCRINOLOGY & METABOLISM Calcified Tissue International Pub Date : 2025-01-31 DOI:10.1007/s00223-025-01344-2
Anne-Cécile Debrach, Matteo Coen, Sophie De Seigneux, Essia Saiji, Sana Boudabbous, Jean-Pierre Willi, Jacques Serratrice, Stéphane Genevay, Emmanuel Biver
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Abstract

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.

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多发性椎体骨折显示部分范可尼综合征与肿瘤诱导的骨软化症的不寻常关联。
肿瘤诱导骨软化症(TIO)是一种罕见的获得性副肿瘤综合征,由间质肿瘤分泌一种名为FGF23的磷化激素引起。患者表现为骨痛、脆性骨折和肌肉无力。生化结果显示低磷血症,血清碱性磷酸酶升高,骨化三醇降低。我们报告一例44岁的男性,因急性腰痛到急诊室,显示D2和L5之间广泛的软骨下骨折。调查显示部分范可尼综合征;然而,他有严重的低磷血症,低1,25- oh维生素D和升高的FGF23水平提示诊断为肿瘤诱导的骨软化症。在范可尼综合征的背景下,最初通过PET-CT检查发现左腿皮下病变,以排除恶性肿瘤。肿瘤切除术使电解质紊乱在手术后几天内得到完全解决。本病例显示TIO可能表现为部分范可尼综合征,强调了在低磷血症病例中检测其他电解质的重要性,以及在部分范可尼伴严重低磷血症病例中寻找TIO的必要性。
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来源期刊
Calcified Tissue International
Calcified Tissue International 医学-内分泌学与代谢
CiteScore
8.00
自引率
2.40%
发文量
112
审稿时长
4-8 weeks
期刊介绍: Calcified Tissue International and Musculoskeletal Research publishes original research and reviews concerning the structure and function of bone, and other musculoskeletal tissues in living organisms and clinical studies of musculoskeletal disease. It includes studies of cell biology, molecular biology, intracellular signalling, and physiology, as well as research into the hormones, cytokines and other mediators that influence the musculoskeletal system. The journal also publishes clinical studies of relevance to bone disease, mineral metabolism, muscle function, and musculoskeletal interactions.
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