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

IF 3.3 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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引用次数: 0

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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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.
期刊最新文献
Unusual Association of Partial Fanconi Syndrome and Tumor-Induced Osteomalacia Revealed by Multiple Vertebral Fractures. Differences in Body Composition, Bone Density, and Tibial Microarchitecture in Division I Female Athletes Participating in Different Impact Loading Sports. 18F-Sodium Fluoride PET/CT as a Tool to Assess Enthesopathies in X-Linked Hypophosphatemia. The Multifactorial Relationship Between Bone Tissue Water and Stiffness at the Proximal Femur. The Diagnosis and Therapy of Osteoporosis in Gaucher Disease.
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