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Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations

Amy Fearn1, Benjamin Allison1, Sarah J Rice2

  • 1Institute for Cell and Molecular Biosciences, Medical School, Newcastle University, Newcastle, United Kingdom.

Physiological Reports
|June 21, 2018
PubMed
Summary

Mutations in the SLC34A1 gene cause kidney stones through autosomal dominant or recessive inheritance. These genetic defects affect the sodium-phosphate transporter NaPi-IIa, leading to impaired phosphate transport and cell retention.

Keywords:
Epithelial cellFanconi syndromeSLC34A1metabolic acidosisnephrolithiasisphosphate

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