Hypophosphatemic Rickets with Hypercalciuria due to Mutation in<i>SLC34A3</i>/Type IIc Sodium-Phosphate Cotransporter: Presentation as Hypercalciuria and Nephrolithiasis

Abstract excerpt

CONTEXT: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a metabolic disorder due to homozygous loss-of-function mutations in the SLC34A3 gene encoding the renal type IIc sodium-phosphate cotransporter (NaPi-IIc). The typical presentation is severe rickets and hypophosphatemia, and hypercalciuria is often discovered later or overlooked. OBJECTIVE: We sought to determine the genetic basis for...

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