Department of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Division of Endocrinology, Central Drug Research Institute, Lucknow, India.
Bone. 2019 Dec;129:115055. doi: 10.1016/j.bone.2019.115055. Epub 2019 Aug 30.
The mechanism behind hypophosphatemia in the setting of neurofibromatosis type 1 (NF1) is not known. We describe a possible role of fibroblast growth factor-23 (FGF23) in the pathophysiology of hypophosphatemia in a patient with NF1.
A 34-year woman with NF1 presented with severe hypophosphatemia, osteomalacia, and elevated plasma FGF23. The patient had considerable improvement on replacement of oral phosphate. Two Ga68 DOTANOC PET-CT scans over a period of 2 years failed to detect any localized uptake. Immuno-staining for FGF23 was absent in the neural-derived tumour cells of the neurofibromas in the proband.
The patient with NF1 had elevated circulating FGF23. Tumour cells in the neurofibroma tissues did not stain for FGF23 on IHC. It is unlikely for neurofibromas to contribute to high circulating FGF23 levels in the proband.
1 型神经纤维瘤病（NF1）患者发生低磷血症的机制尚不清楚。我们描述了成纤维细胞生长因子 23（FGF23）在 NF1 患者低磷血症病理生理学中的可能作用。
一名 34 岁女性，患有 NF1，表现为严重低磷血症、佝偻病和血浆 FGF23 水平升高。患者口服磷酸盐替代治疗后有明显改善。2 年内进行的 2 次 Ga68 DOTANOC PET-CT 扫描未能发现任何局部摄取。在该患者的神经纤维瘤组织中的神经源性肿瘤细胞中，FGF23 的免疫染色为阴性。
该 NF1 患者的循环 FGF23 水平升高。神经纤维瘤组织中的肿瘤细胞在免疫组化染色中未显示 FGF23。神经纤维瘤不太可能导致该患者循环 FGF23 水平升高。
