Phenotypic variability in phosphate transport disorders highlights need for individualized treatment strategies

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.