Searchable abstracts of presentations at key conferences on calcified tissues

ba0002p33 | (1) | ICCBH2013

Patients with mutations in PHEX or FGF23 share FGF23 excess but present distinct bone and mineral metabolism features

Theret Claire , Esterle Laure , Souchon Pierre-Francois , Allain-Launay Emma , Roussey Gwennaelle , Deschenes Georges , Chaussain Catherine , Rothenbuhler Anya , Prie Dominique , Silve Caroline , Kamenicky Peter , Linglart Agnes

Mutations in PHEX and specific missense mutations of FGF23 result in elevated circulating FGF23 and hypophosphatemic rickets, respectively X-linked hypophosphatemic rickets (XLHR) and autosomal dominant HR (ADHR). FGF23, secreted by osteoblasts and osteocytes, regulates phosphate handling and vitamin D metabolism through its action on kidney. Extra renal effects of FGF23, including bone, have been very recently suspected mainly from overexpression or underexpression of FGF23 i...