Pathways of renal phosphate wasting in hereditary hypophosphatemic rickets and tumor-induced osteomalacia

Levels of FGF23 are increased by inactivating mutations in PHEX (as in XLH) or DMP1 (as in ARHR), by activating mutations in FGF23 (as in ADHR), or by tumor production of FGF23 (as in TIO). Each of these disorders leads to excessive activity of FGF23, which suppresses the Na/Pi cotransporter and causes renal phosphate-wasting. In HHRH, the renal phosphate-wasting is caused by a mutation in the Na/Pi cotransporter itself.

XLH: X-linked hypophosphatemic rickets; PHEX: phosphate regulating endopeptidase on the X chromosome gene; ARHR: autosomal recessive hypophosphatemic rickets; DMP1: dentin matrix protein 1 gene; ENPP1: ectonucleotide pyrophosphatase/phosphodiesterase1 gene; FGF23: fibroblast growth factor 23; ADHR: autosomal dominant hypophosphatemic rickets; TIO: tumor-induced osteomalacia; PTH: parathyroid hormone; Na/Pi: sodium-phosphate; HHRH: hereditary hypophosphatemic rickets with hypercalciuria.

Graphic 82448 Version 4.0

خرید پکیج

Pathways of renal phosphate wasting in hereditary hypophosphatemic rickets and tumor-induced osteomalacia