Inherited proximal tubular disorders and nephrolithiasis

Ben Oliveira; Robert Unwin; Stephen B Walsh

doi:10.1007/s00240-018-01103-z

Inherited proximal tubular disorders and nephrolithiasis

Urolithiasis. 2019 Feb;47(1):35-42. doi: 10.1007/s00240-018-01103-z. Epub 2019 Jan 23.

Authors

Ben Oliveira¹, Robert Unwin^{1

2}, Stephen B Walsh³

Affiliations

¹ Royal Free Hospital/Medical School, Centre for Nephrology, University College London, London, NW3 2PF, UK.
² AstraZeneca IMED ECD CVRM R&D, Gothenburg, Sweden.
³ Royal Free Hospital/Medical School, Centre for Nephrology, University College London, London, NW3 2PF, UK. ucgbsbw@ucl.ac.uk.

PMID: 30673801
DOI: 10.1007/s00240-018-01103-z

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.

Keywords: Nephrolithiasis; Physiology; Tubular.

Publication types

Review

MeSH terms

Amino Acid Transport Systems / genetics*
Amino Acid Transport Systems / metabolism
Calcium / metabolism
Humans
Kidney Calculi / genetics*
Kidney Calculi / physiopathology
Kidney Tubules, Proximal / pathology
Kidney Tubules, Proximal / physiopathology*
Phosphate Transport Proteins / genetics*
Phosphate Transport Proteins / metabolism
Phosphates / metabolism
Renal Elimination / genetics*

Substances

Amino Acid Transport Systems
Phosphate Transport Proteins
Phosphates
Calcium