hrp0097fc2.4 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

A real-world study in Germany and Switzerland regarding renal health in children with X-linked hypophosphatemia

Böckmann Ineke , Leifheit-Nestler Maren , John Ulrike , Metzing Oliver , Rehberg Mirko , Peter Schlingmann Karl , Kemper Markus , Patzer Ludwig , Weitz Marcus , Wühl Elke , Freiberg Clemens , Sparta Giuseppina , Hiort Olaf , Schnabel Dirk , Hoppe Bernd , Haffner Dieter

Purpose: X-linked hypophosphatemia (XLH) is the most common hereditary cause of hypophosphatemic rickets. Elevated circulating levels of fibroblast growth factor 23 (FGF23) caused by mutations in the PHEX gene lead to renal phosphate wasting and rickets. Conventional treatment with phosphate salts and active vitamin D is associated with nephrocalcinosis in XLH patients. Mice on a high phosphate diet develop proximal tubular injury. Detailed analysis on kidney ...