ea0035p140 | Calcium and Vitamin D metabolism | ECE2014
Kamenicky Peter
, Boros Emese
, Rothenbuhler Anya
, Brailly Sylvie
, Silve Caroline
, Souberbielle Jean-Claude
, Chanson Philippe
, Linglart Agnes
Objectives: X-linked hypophosphatemic Rickets (XLHR) is characterized by phosphate wasting and decreased production of 1,25OH-vitamin D, due, in most patients, to elevated FGF23 and PHEX mutation. In children, the disease has been extensively studied because of the devastating presentation of rickets, teeth abcesses, and growth retardation. In adults, however, metabolic complications, such as hyperparathyroidism or consequences on glucose and lipid metabolism of FGF23 excess, ...