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Elevated FGF23 in a patient with hypophosphatemic osteomalacia associated with neurofibromatosis type 1.
- Source :
-
Bone [Bone] 2019 Dec; Vol. 129, pp. 115055. Date of Electronic Publication: 2019 Aug 30. - Publication Year :
- 2019
-
Abstract
- Context: 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.<br />Case Description: 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.<br />Conclusion: 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.<br /> (Copyright © 2019 Elsevier Inc. All rights reserved.)
- Subjects :
- Adult
Female
Fibroblast Growth Factor-23
Humans
Hypophosphatemia diagnostic imaging
Hypophosphatemia pathology
Neurofibromatosis 1 diagnostic imaging
Neurofibromatosis 1 pathology
Osteomalacia diagnostic imaging
Osteomalacia pathology
Fibroblast Growth Factors metabolism
Hypophosphatemia complications
Hypophosphatemia metabolism
Neurofibromatosis 1 complications
Neurofibromatosis 1 metabolism
Osteomalacia complications
Osteomalacia metabolism
Subjects
Details
- Language :
- English
- ISSN :
- 1873-2763
- Volume :
- 129
- Database :
- MEDLINE
- Journal :
- Bone
- Publication Type :
- Academic Journal
- Accession number :
- 31476437
- Full Text :
- https://doi.org/10.1016/j.bone.2019.115055