Inherited proximal tubular disorders and nephrolithiasis.

Ben Oliveira, Robert Unwin, Stephen B Walsh

Journal: Urolithiasis 2019;47(1):35-42

PMID: 30673801

Abstract

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.

Address: Royal Free Hospital/Medical School, Centre for Nephrology, University College London, London, NW3 2PF, UK.; AstraZeneca IMED ECD CVRM R&D, Gothenburg, Sweden.; Royal Free Hospital/Medical School, Centre for Nephrology, University College London, London, NW3 2PF, UK. [email protected].

DOI: 10.1007/s00240-018-01103-z

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https://dx.doi.org/10.1007/s00240-018-01103-z

MeSH Terms: Amino Acid Transport Systems, Calcium, Humans, Kidney Calculi, Kidney Tubules, Proximal, Phosphate Transport Proteins, Phosphates, Renal Elimination