Elevated FGF23 in a patient with hypophosphatemic osteomalacia associated with neurofibromatosis type 1.
FGF23
Hypophosphatemia
Neurofibromatosis type 1
Journal
Bone
ISSN: 1873-2763
Titre abrégé: Bone
Pays: United States
ID NLM: 8504048
Informations de publication
Date de publication:
12 2019
12 2019
Historique:
received:
22
03
2019
revised:
10
08
2019
accepted:
28
08
2019
pubmed:
3
9
2019
medline:
29
8
2020
entrez:
3
9
2019
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 31476437
pii: S8756-3282(19)30345-X
doi: 10.1016/j.bone.2019.115055
pii:
doi:
Substances chimiques
FGF23 protein, human
0
Fibroblast Growth Factors
62031-54-3
Fibroblast Growth Factor-23
7Q7P4S7RRE
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
115055Informations de copyright
Copyright © 2019 Elsevier Inc. All rights reserved.