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Updated: Jun 4, 2025

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
Published on: June 23, 2015
Phenotypic variability in phosphate transport disorders highlights need for individualized treatment strategies
1Section of Endocrinology, Department of Internal Medicine, Yale University School of Medicine, New Haven, Connecticut, USA; Department of Urology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Abstract:
Pathogenic variants in the SLC34A1 and SLC34A3 genes, encoding sodium-phosphate cotransporters 2a (NPT2a) and 2c (NPT2c), are linked to rare phosphate-wasting disorders. In this issue, Brunkhorst et al. explore the clinical presentations, biochemical profiles, and treatment outcomes associated with these genetic variants in 113 individuals. The study highlights distinct phenotypes, potential treatment challenges, and the need for further research to optimize therapeutic strategies and understand long-term outcomes for affected individuals.
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