Hereditary hypophophatemic rickets with hypercalciuria

Definition:

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare autosomal recessive disorder that is characterized by reduced renal phosphate reabsorption, hypophosphatemia, and rickets. Patients present with hypercalciuria due to increased serum 1, 25-dihydroxyvitamin D levels and increased intestinal calcium absorption. HHRH is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.

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