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Renal Tubular Transport of Amino Acids and Phosphate in Normal and Mutant States
註釋The pathophysiology of the major inborn errors of renal transport in man, is reviewed and summarized. The experimental sections describe: 1) the mutant Hyp mouse with X-linked hypophosphatemia and evidence for an intrinsic defect in net tubular reabsorption of phosphate anion; 2) the PRO/Re mouse with autosomal recessive proline oxidase deficiency and evidence that intracellular oxidation of solute comes to influence its transepithelial reabsorption; 3) renal handling of the inert amino acid a-aminoisobutyric acid (AIB) and of phosphate by the rat in vivo. The latter investigations show that AIB is transported by carriers serving the natural L-amino acids. It equilibrates slowly with an intrarenal pool so as to achieve significant cell-to-lumen flux at steady-state. Whereas bovine parathyroid extract enhances fractional excretion of phosphate in the intact and TPTX rat, AIB excretion is not similarly affected in the TPTX rat. [...].