Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations.
- Authors:
- Amy Fearn,
- Benjamin Allison,
- Sarah J Rice,
- Noel Edwards,
- Jan Halbritter,
- Soline Bourgeois,
- Eva M Pastor-Arroyo,
- Friedhelm Hildebrandt,
- Velibor Tasic,
- Carsten A Wagner,
- Nati Hernando,
- John A Sayer,
- Andreas Werner
Physiol Rep 2018 Jun;6(12):e13715
Institute for Cell and Molecular Biosciences, Medical School, Newcastle University, Newcastle, United Kingdom.
Mutations in SLC34A1, encoding the proximal tubular sodium-phosphate transporter NaPi-IIa, may cause a range of clinical phenotypes including infantile hypercalcemia, a proximal renal Fanconi syndrome, which are typically autosomal recessive, and hypophosphatemic nephrolithiasis, which may be an autosomal dominant trait. Here, we report two patients with mixed clinical phenotypes, both with metabolic acidosis, hyperphosphaturia, and renal stones. Patient A had a single heterozygous pathogenic missense mutation (p. Read More
