Phosphate is critical for the maintenance of skeletal integrity, is a necessary component of important biomolecules, and is essential for cellular metabolism. Mechanisms of phosphate regulation in the kidney—the most critical organ for maintaining short-term serum phosphate concentrations—are incompletely understood. This Review describes how the identification of genetic alterations in Mendelian disorders of hypophosphatemia and hyperphosphatemia has led to the isolation of novel genes and the identification of new roles for existing proteins in the control of renal phosphate handling.
- Emily G. Farrow
- Kenneth E. White
