Royal Free Hospital/Medical School, Centre for Nephrology, University College London, London, NW3 2PF, UK.
AstraZeneca IMED ECD CVRM R&D, Gothenburg, Sweden.
Urolithiasis. 2019 Feb;47(1):35-42. doi: 10.1007/s00240-018-01103-z. Epub 2019 Jan 23.
The proximal tubule is responsible for reclaiming water, phosphates and amino acids from the tubular filtrate. There are genetic defects in both phosphate and amino acid transporters leading to nephrolithiasis. This review also explores genetic defects in regulators of phosphate and calcium transport in this nephron segment that lead to stone formation.
近端小管负责从管状滤液中回收水、磷酸盐和氨基酸。在磷酸盐和氨基酸转运蛋白中存在遗传缺陷，导致肾结石。这篇综述还探讨了导致结石形成的该肾单位段中磷酸盐和钙转运调节剂的遗传缺陷。
