hrp0098p1-16 | Bone, Growth Plate and Mineral Metabolism 1 | ESPE2024
Lanzafame Ruggero
, Sala Elisa
, Crocè Ludovica
, Piselli Giorgia
, Drago Gabriele
, Mora Stefano
, Pitea Marco
Introduction: Serum phosphate concentration is regulated by renal phosphate reabsorption, mediated by sodium–phosphate cotransporters. Germline heterozygous mutations of SLC34A1, encoding for the renal sodium–phosphate cotransporter NPT2, are associated with the autosomal dominant hypophosphatemic nephrolithiasis/osteoporosis type 1. FGF23 acts upon its specific receptor FGFR1 to down-regulate the number of NPT2 luminal channels. In X-link...