Hypophosphatemic rickets

Definition:

Hypophosphataemic rickets, also known as vitamin D resistant rickets, is a group of genetic disorders characterized by defective reabsorption of inorganic phosphorus by the renal tubules resulting in hypophosphatemia and rickets associated with mineralization defect. Fibroblast growth factor-23 (FGF23) regulates phosphate reabsorption in the kidney and therefore plays an essential role in phosphate balance in humans. There is a host of defects that ultimately lead to excess FGF23 levels and thereby cause renal phosphate wasting and hypophosphatemic rickets.

References:

[1]. A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium. Nat Genet. 1995 Oct;11(2):130-6. [Content Brief]

[2]. ADHR Consortium, et al. Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. Nat Genet. 2000 Nov;26(3):345-8. [Content Brief]

[3]. Bettina Lorenz-Depiereux, et al. DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. Nat Genet. 2006 Nov;38(11):1248-50. [Content Brief]

[4]. Bettina Lorenz-Depiereux, et al. Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. Am J Hum Genet. 2006 Feb;78(2):193-201. [Content Brief]

[5]. Hamilton de Menezes Filho, et al. Hypophosphatemic rickets and osteomalacia. Arq Bras Endocrinol Metabol. 2006 Aug;50(4):802-13. [Content Brief]

[6]. John M Pettifor, et al. What's new in hypophosphataemic rickets?. Eur J Pediatr. 2008 May;167(5):493-9. [Content Brief]

[7]. S E Lloyd, et al. A common molecular basis for three inherited kidney stone diseases. Nature. 1996 Feb 1;379(6564):445-9. [Content Brief]

[8]. Varda Levy-Litan, et al. Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. Am J Hum Genet. 2010 Feb 12;86(2):273-8. [Content Brief]

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