Departamento de Endocrinología, Escuela de Medicina, Pontificia Universidad Católica de Chile, Diagonal Paraguay 362, Cuarto piso, Santiago, Chile.
Departamento de Neurocirugía, Escuela de Medicina, Pontificia Universidad Católica de Chile, Diagonal Paraguay 362, Santiago, Chile.
Osteoporos Int. 2017 Jul;28(7):2187-2193. doi: 10.1007/s00198-017-4007-2. Epub 2017 Mar 25.
The majority of tumor-induced osteomalacia cases have been reported in the Northern Hemisphere and Asia. In this first series of South American patients, we show that the clinical presentation and sensitivity of plasmatic fibroblast growth factor 23 and somatostatin analog-based imaging are similar to those described in other populations.
Describe the experience of clinical presentation, diagnostic study, and treatment of patients with tumor-induced osteomalacia (TIO) in a South American academic center in comparison to literature.
Analysis of the records of patients diagnosed with TIO. The clinical presentation, diagnostic studies, and treatment were analyzed. Fibroblast growth factor 23 (FGF23) was measured by ELISA.
Six patients were diagnosed with TIO during the studied period. The patients' median age was 53 years (range 22-64). All patients presented with weakness and pain in the extremities. Four experienced fractures during their evolution. The median time to diagnosis was 4.5 years (1-20). Biochemical studies showed hypophosphatemia, median of 1.4 mg/dL (1.2-1.6), with low maximum rates of tubular reabsorption of phosphate adjusted for glomerular filtration rate. FGF23 was elevated in 4/6 patients and inappropriately normal in the other two. In three patients, the location of the tumor was clinically evident and confirmed with anatomical imaging. In the remaining patients, two tumors were located with Ga DOTATATE-PET/CT and one with OctreoScan. The causal tumors were located in the lower extremities in five patients and invading the frontal sinus in one patient. In all patients, tumors were successfully removed. Within 14 days, there was normalization of phosphate and FGF23 levels and resolution of clinical symptoms in all patients. In all cases, the histopathology was compatible with a phosphaturic mesenchymal tumor.
The clinical presentation, delay time to diagnosis, FGF23 diagnostic sensitivity and histopathology in this first series of South American patients is similar to those described in other populations. The success of localization by somatostatin analog-based imaging, suggests this may the optimal imaging modality.
描述在南美学术中心的一组患者中,肿瘤诱导性骨软化症(TIO)的临床表现、诊断研究和治疗经验,并与文献进行比较。
分析诊断为 TIO 的患者的病历。分析了临床表现、诊断研究和治疗情况。通过 ELISA 测量成纤维细胞生长因子 23(FGF23)。
研究期间共诊断出 6 例 TIO 患者。患者的中位年龄为 53 岁(范围 22-64 岁)。所有患者均表现为四肢无力和疼痛。4 例在疾病进展过程中发生骨折。中位诊断时间为 4.5 年(1-20 年)。生化研究显示低磷血症,中位数为 1.4mg/dL(1.2-1.6),最大肾小管磷重吸收率校正肾小球滤过率降低。4/6 例患者的 FGF23 升高,另外 2 例患者的 FGF23 水平不适当正常。在 3 例患者中,肿瘤的位置在临床上明显,并通过解剖影像学证实。在其余患者中,2 例肿瘤通过 Ga DOTATATE-PET/CT 定位,1 例肿瘤通过 OctreoScan 定位。致病肿瘤位于 5 例患者的下肢,1 例患者的额窦。所有患者的肿瘤均成功切除。所有患者在 14 天内磷酸盐和 FGF23 水平恢复正常,临床症状缓解。所有病例的组织病理学均符合致磷酸盐尿的间叶性肿瘤。
这组南美患者的临床表现、诊断延迟时间、FGF23 诊断敏感性和组织病理学与其他人群描述的相似。基于生长抑素类似物的影像学定位成功,表明这可能是最佳的影像学检查方法。