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Review
. 2008 May;167(5):493-9.
doi: 10.1007/s00431-007-0662-1. Epub 2008 Jan 24.

What's new in hypophosphataemic rickets?

John M Pettifor  1
Affiliations
Review

What's new in hypophosphataemic rickets?

John M Pettifor. Eur J Pediatr. 2008 May.

Abstract

Although relatively uncommon individually, the various causes of hypophosphataemic rickets have provided an impetus for unravelling the mechanisms of phosphate homeostasis and bone mineralisation. Over the past 10 years, considerable advances have been made in establishing the gene mutations responsible for a number of the inherited causes and in understanding the mechanisms responsible for tumour-induced osteomalacia/rickets. The most exciting aspects of these discoveries have been the discovery of a whole new class of hormones or phosphatonins which are thought to control phosphate homoeostasis and 1 alpha-hydroxylase activity in the kidney, through a bone-kidney-intestinal tract axis. Although our understanding of the interrelationships is far from complete, it raises the possibilities of improved therapeutic agents in the long-term, and has resulted in improved diagnostic abilities in the short-term.

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Figures

Fig. 1
Fig. 1
Co-localisation of an osteomalacia-inducing tumour in the distal metaphysis of the left femur using 111In-octreotide scintigraphy and computed tomography (CT) scanning in a 26-year-old subject who had presented at the age of 16 years with severe hypophosphataemic rickets and multiple fractures
Fig. 2
Fig. 2
The effects of increased FGF23 on bone and mineral homeostasis. Abbreviations: ADHR=autosomal dominant hypophosphataemic rickets; ARHR=autosomal hypophosphataemic rickets; Ca=calcium; FGF23=fibroblast growth factor 23; Pi=inorganic phosphate; PTH=parathyroid hormone; TIO=tumour-induced osteomalacia; XLH=X-linked hypophosphataemic rickets; 1,25-(OH)2D=1,25 dihydroxyvitamin D; –, suppression; +, stimulation; ↑, increased; ↓, decreased
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