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3126842 
Journal Article 
1,25-Diydroxyvitamin D as Monotherapy for XLH: Back to the Future? 
Ovejero, D; Gafni, RI; Collins, MT 
2016 
Yes 
Journal of Bone and Mineral Research
ISSN: 0884-0431
EISSN: 1523-4681 
English 
27093323 
The identification in the year 2000 of mutations in fibroblast growth factor 23 (FGF23) as the genetic cause of autosomal dominant hypophosphatemic rickets (ADHR) was a seminal discovery in the field of bone and mineral homeostasis (1). Alterations in FGF23 levels were subsequently identified as the common abnormality in a number of phosphate homeostasis disorders, including X-linked hypophosphatemic rickets (XLH) (2), tumor-induced osteomalacia (TIO) (3), fibrous dysplasia of bone (4), autosomal recessive hypophosphatemic rickets (ARHR) (5), cutaneous skeletal hypophosphatemia syndrome (CSHS) (6), familial tumoral calcinosis (7) and others. The primary actions of FGF23 are to regulate blood phosphate and 1,25-dihydroxyvitamin D3 (1,25-D) levels by its actions on renal sodium/phosphate cotransporters and 25-hydroxyvitamin D hydroxylation (8). This article is protected by copyright. All rights reserved.