Genetic disorders of phosphate regulation.

摘要: Regulation of phosphate homeostasis is critical for many biological processes, and both hypophosphatemia hyperphosphatemia can have adverse clinical consequences. Only a very small percentage (1%) total body present in the extracellular fluid, which measured by routine laboratory assays does not reflect stores. Phosphate absorbed from gastrointestinal tract via transcellular route [sodium cotransporter 2b (NaPi2b)] across paracellular pathway. Approximately 85% filtered reabsorbed kidney, predominantly proximal tubule, NaPi2a NaPi2c, are on brush border membrane. Renal transport tightly regulated. Dietary intake, parathyroid hormone (PTH), 1,25 (OH)2 vitamin D3, fibroblast growth factor 23 (FGF23) principal regulators reabsorption kidney. Recent advances genetic techniques animal models identified disorders homeostasis. Mutations NaPi2c; hormonal dysregulation PTH, FGF23, Klotho, primarily responsible most transport. The main focus this educational review article to discuss features regulation provide understanding treatment options.