ESPE Abstracts

SLC34A1 gene encodes for the sodium-phosphate cotransporter 2A (NPT2a), highly expressed in the proximal renal tubule. Three different human phenotypes have been linked with NaPi-IIa variation: Hypophosphatemic Nephrolithiasis with Osteoporosis, Renotubular Fanconi Syndrome Type 2 and Infantile Hypercalcemia 2 (HCINF2). Dysfunctional NPT2a can lead to renal phosphate loss, hypophosphatemia, increased CYP27B, decreased CYP24A1 expression with increased 1,25(OH)2D and suppressed...