Jayaraj Mangala Sanjana, Paidakula Ramakrishna Manjunath, Achar Shashidhar, Narayanaswamy Srikanth
Endocrinology, MS Ramaiah Medical College, Bengaluru, Karnataka, India.
Endocrinology, MS Ramaiah Medical College, Bengaluru, India
BMJ Case Rep. 2025 Jan 14;18(1):e262528. doi: 10.1136/bcr-2024-262528.
Tumour-induced osteomalacia (TIO) is an uncommon, debilitating disorder often characterised by non-specific clinical manifestations, posing a significant diagnostic challenge. The tumours causing TIO can be minuscule and occur in unusual areas, further complicating diagnosis. This report details the case of a woman in her early 30s presenting with chronic pain who subsequently developed fragility fractures. The evaluation revealed hypophosphataemia with evidence of renal phosphate wasting demonstrated by a low ratio of tubular maximum reabsorption of phosphate to the glomerular filtration rate for her age. Ga-68 DOTANOC positron emission tomography/CT successfully localised the fibroblast growth factor-23-secreting tumour at the lower table of the mandible close to the mentum. Given the overall general health condition of the patient, radiofrequency ablation (RFA), a minimally invasive approach, was performed despite surgical resection remaining the traditional gold standard treatment. Following RFA, the patient reported significant symptomatic improvement and regained mobility through rehabilitative measures.
肿瘤诱导的骨软化症（TIO）是一种罕见的、使人衰弱的疾病，通常表现为非特异性临床表现，给诊断带来重大挑战。导致TIO的肿瘤可能极小且发生在不寻常的部位，进一步增加了诊断的复杂性。本报告详细介绍了一名30岁出头的女性病例，该女性最初表现为慢性疼痛，随后发展为脆性骨折。评估发现低磷血症，根据其年龄，肾小管对磷的最大重吸收率与肾小球滤过率的比值较低，证明存在肾性磷消耗。Ga-68 DOTANOC正电子发射断层扫描/计算机断层扫描（PET/CT）成功地在下颌骨靠近颏部的下表定位了分泌成纤维细胞生长因子-23的肿瘤。鉴于患者的整体健康状况，尽管手术切除仍是传统的金标准治疗方法，但还是采用了微创方法——射频消融（RFA）。RFA术后，患者报告症状有显著改善，并通过康复措施恢复了活动能力。
