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...

Background: Silver-Russell Syndrome (SRS) is a clinically heterogenous syndrome, characterized by intrauterine and postnatal growth retardation, distinct facial features, relative macrocefaly at birth and body asymmetry later in life, in combination with other malformations. Feeding difficulties, hypoglycemia and speech delay may appear. SRS diagnosis is clinical, according to the Netchine–Harbison clinical scoring system. Only 60% of cases are genetical...