IMPE Abstracts

Introduction: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare cause of genetic rickets with autosomal recessive inheritance. It is caused by a defect in the type IIc sodium dependent phosphate cotransporter (SLC34A3 gene), one of the main responsible of phosphate homeostasis in the kidney. The clinical, biochemical and radiological characteristics are variable among affected individuals.Clinical case:</st...