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非创伤性骨折的罕见病因:4例肿瘤性骨软化症患者的病例系列

A rare cause of atraumatic fractures: case series of four patients with tumor-induced osteomalacia.

作者信息

Chen Debbie W, Clines Gregory A, Collins Michael T, Douyon Liselle, Choksi Palak U

机构信息

Division of Metabolism, Endocrinology and Diabetes, University of Michigan, Ann Arbor, MI USA.

Ann Arbor Veterans Affairs Healthcare System, Ann Arbor, MI USA.

出版信息

Clin Diabetes Endocrinol. 2020 Jul 6;6:12. doi: 10.1186/s40842-020-00101-8. eCollection 2020.

Abstract

BACKGROUND

Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome that presents with hypophosphatemia, bone pain, muscle weakness and fractures. We report a case series of four patients with TIO that resulted in significant muscle weakness and multiple atraumatic fractures.

CASE PRESENTATION

Four patients were referred to an endocrinology clinic for the evaluation of multiple atraumatic fractures, muscle weakness, generalized muscle and joint pain. Laboratory evaluation was notable for persistent hypophosphatemia due to urinary phosphate wasting, low to low-normal 1,25-dihydroxyvitamin D, elevated alkaline phosphatase and elevated fibroblast growth factor 23 (FGF23). Tumor localization was successful, and all four patients underwent resection of phosphaturic mesenchymal tumors. Post-operatively, patients exhibited normalization of serum phosphorus, in addition to significant improvement in their ambulatory function.

CONCLUSION

Hypophosphatemia with elevated FGF23 and low 1,25-dihydroxyvitamin D level in the setting of multiple atraumatic fractures necessitates careful evaluation for biochemical evidence of tumor-induced osteomalacia.

摘要

背景

肿瘤诱导的骨软化症(TIO)是一种罕见的副肿瘤综合征,表现为低磷血症、骨痛、肌肉无力和骨折。我们报告了一组4例TIO患者,他们出现了明显的肌肉无力和多处无创伤性骨折。

病例介绍

4例患者因多处无创伤性骨折、肌肉无力、全身肌肉和关节疼痛被转诊至内分泌科门诊。实验室检查结果显示,由于尿磷丢失导致持续性低磷血症,1,25-二羟维生素D水平低至正常下限,碱性磷酸酶升高,成纤维细胞生长因子23(FGF23)升高。肿瘤定位成功,所有4例患者均接受了磷酸尿性间叶肿瘤切除术。术后,患者血清磷恢复正常,其行走功能也有显著改善。

结论

在多处无创伤性骨折的情况下,伴有FGF23升高和1,25-二羟维生素D水平降低的低磷血症需要仔细评估是否有肿瘤诱导的骨软化症的生化证据。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49c9/7339413/4432f3f09aed/40842_2020_101_Fig1_HTML.jpg

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