Nephrology Dialysis Transplantation, Vol 14, Issue 2 333-341, Copyright © 1999 by Oxford University Press
H Tenenhouse
X-linked hypophosphatemia is an inherited disorder of phosphate (Pi)
homeostasis characterized by growth retardation, rickets and osteomalacia,
hypophosphataemia, and aberrant renal Pi reabsorption and vitamin D
metabolism. Studies in murine Hyp and
Gy homologues have identified a specific defect in
Na+-Pi cotransport at the brush border membrane,
abnormal regulation of 1,25-dihydroxyvitamin D3(1,25(OH)2D) synthesis and
degradation, and an intrinsic defect in bone mineralization. The mutant
gene has been identified in XLH patients, by positional cloning, and in
Hyp and Gy mice, and was
designated PHEX/Phex to signify a PHosphate-regulating gene with homology
to Endopeptidases on the X-chromosome. PHEX/Phex is expressed in bones and
teeth but not in kidney and efforts are under way to elucidate how loss of
PHEX/Phex is involved in the activation or inactivation of a peptide
hormone(s) which plays a key role in the regulation of bone mineralization,
renal Pi handling and vitamin D metabolism.
ORIGINAL ARTICLES
Molecular basis of renal disease. X-linked hypophosphataemia: a homologous disorder in humans and mice
Montreal Children's Hospital, 2300 Tupper Street, Montreal, Quebec, H3H 1P3 Canada. E-mail: molht@www.debelle.mcgill.ca
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