关键词: Hypophosphatemia fibroblast growth factor 23 phosphaturic mesenchymal tumor tumor-induced osteomalacia

来  源:   DOI:10.13107/jocr.2024.v14.i02.4204   PDF(Pubmed)

Abstract:
UNASSIGNED: An uncommon medical disorder known as tumor-induced osteomalacia (TIO) is characterized by severe hypophosphatemia, renal phosphate wasting, and osteomalacia due to a tumor. TIO has recently been linked to a particular kind of tumor known as phosphaturic mesenchymal tumor (PMT). PMTs release phosphatonins, such as fibroblast growth factor-23 (FGF23), which elevates serum levels of FGF23, leading to phosphate wasting and osteomalacia. However, due to their infrequent occurrence and vague symptoms, such as bone pain, myopathies, arthralgias, fractures, and weakness, the diagnosis of PMTs is often delayed or misdiagnosed. In this case report, a rare case of PMT in the proximal femur resulted in TIO, and it highlights the long and difficult journey from symptom onset to correct diagnosis and successful surgical management.
UNASSIGNED: A 51-year-old woman endured persistent joint pain, muscle weakness, and fatigue for 2 years. Despite having no known health issues, she suffered from hip pain that spreads to her knees and ankles, and tingling and paresthesia in her legs, making it difficult to bear weight. She underwent surgery to remove a parathyroid adenoma, but unfortunately, her symptoms returned. Her magnetic resonance imaging revealed a lesion in her proximal femur, which was promptly removed. The tissue examination results verified the identity of the tumor as a PMT. The patient\'s phosphorus levels returned to normal and after a year of follow-up, she was able to resume normal daily activities, bear weight on the affected limb and showed no signs of the tumor recurrence.
UNASSIGNED: Adult patients experiencing bone pain, progressive weakness, and multiple fractures with no family history of similar conditions should consider TIO as a potential cause. It is rare and often misdiagnosed and complete surgical removal of the tumor is the optimal treatment for TIO, resulting in the resolution of long-standing symptoms and biochemical abnormalities. Timely recognition, localization, and surgical removal of the tumor are crucial for symptom resolution and the restoration of normal bone mineralization.
摘要:
一种罕见的医学疾病,称为肿瘤诱导的骨软化症(TIO),其特征是严重的低磷酸盐血症,肾磷酸盐消耗,和肿瘤引起的骨软化症.TIO最近与一种称为磷性间充质肿瘤(PMT)的特定类型的肿瘤有关。PMT释放磷素类,如成纤维细胞生长因子-23(FGF23),血清FGF23水平升高,导致磷酸盐消耗和骨软化。然而,由于其罕见的发生和模糊的症状,比如骨痛,肌病,关节痛,骨折,和弱点,PMT的诊断常被延误或误诊。在这个案例报告中,一例罕见的股骨近端PMT导致TIO,它强调了从症状发作到正确诊断和成功手术治疗的漫长而艰难的旅程。
一名51岁的妇女忍受持续的关节疼痛,肌肉无力,疲劳2年。尽管没有已知的健康问题,她的髋部疼痛蔓延到膝盖和脚踝,她的双腿刺痛和感觉异常,很难承受重量。她接受了切除甲状旁腺腺瘤的手术,但不幸的是,她的症状又回来了。她的磁共振成像显示股骨近端有病变,被迅速删除。组织检查结果验证了肿瘤作为PMT的身份。患者的磷水平恢复正常,经过一年的随访,她能够恢复正常的日常活动,在受影响的肢体上承受重量,并且没有显示肿瘤复发的迹象。
成年患者出现骨痛,进步的弱点,无类似疾病家族史的多发性骨折应将TIO视为潜在原因。这是罕见的,经常被误诊,完全手术切除肿瘤是TIO的最佳治疗方法,导致长期症状和生化异常的解决。及时识别,本地化,手术切除肿瘤对于症状缓解和恢复正常的骨矿化至关重要。
公众号