JOURNAL ARTICLE
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Inherited proximal tubular disorders and nephrolithiasis.

Urolithiasis 2019 Februrary
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.

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