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. 2012 Mar;16(2):177-82.
doi: 10.4103/2230-8210.93733.

Hypophosphatemic rickets

Varsha S Jagtap  1 , Vijaya Sarathi, Anurag R Lila, Tushar Bandgar, Padmavathy Menon, Nalini S Shah
Affiliations

Hypophosphatemic rickets

Varsha S Jagtap et al. Indian J Endocrinol Metab. 2012 Mar.

Abstract

Hypophosphatemic rickets is a disorder of bone mineralization caused due to defects (inherited/acquired) in the renal handling of phosphorus. This group includes varied conditions, X-linked hypophosphatemic rickets being the most common inheritable form of rickets. The other common forms are autosomal dominant hypophosphatemic rickets and tumor-induced osteomalacia. Although these conditions exhibit different etiologies, increased phosphatonins form a common link among them. Fibroblast growth factor 23 (FGF23) is the most widely studied phosphatonin. Genetic studies tend to show that the phosphorus homeostasis depends on a complex osteo-renal axis, whose mechanisms have been poorly understood so far. Newer disorders are being added as the mechanisms in this axis get discovered. This review focuses on the clinical, biochemical, genetic features and management of hypophosphatemic disorders leading to defective mineralization.

Keywords: 1; 25(OH)2D3; X-linked hypophosphatemic rickets; autosomal dominant hypophosphatemic rickets; fibroblast growth factor 23; hypophosphatemia; tumor-induced osteomalacia.

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Conflict of interest statement

Conflict of Interest: None declared.

Figures

Figure 1
Figure 1
Classification of rickets (ADHR: autosomal dominant hypophosphatemic rickets, ARHR: autosomal recessive hypophosphatemic rickets, ENS: epidermal nevus syndrome, FGF23: fibroblast growth factor 23, FS: Fanconi syndrome, HHRH: hypophosphatemic rickets with hypercalciuria, NPT2a: sodium phosphate cotransporter 2a, NHERF1: sodium hydrogen exchange regulator factor 1, OGD: osteoglophonic dysplasia, PTH: parathyroid hormone, TIO: tumor-induced osteomalacia, Vit D: vitamin D, XLH: X-linked hypophosphatemic rickets)
Figure 2
Figure 2
Interaction of major players involved in phosphate homeostasis
Figure 3
Figure 3
Pathophysiology of FGF23-mediated hypophosphatemic rickets (XLH: X-linked hypophosphatemic rickets, ADHR: autosomal dominant hypophosphatemic rickets, TIO: tumor-induced osteomalacia, FGF23: fibroblast growth factor 23)
Figure 4
Figure 4
18-F-FDG-PET in a patient with tumor-induced osteomalacia localizing tumor in the lower end of left femur. This tumor was removed and the histopathology showed ossifying fibroma
See this image and copyright information in PMC

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