← brief for 2026-09-03 · Slowing decline

Two variants in SLC34A3 in a patient with X-linked hypophosphatemia: a diagnostic and therapeutic dilemma

Key takeaways

This is a report on one patient who had gene changes linked to two different phosphate-wasting conditions at once. Phosphate is a mineral the kidneys either keep or flush out, and losing too much weakens bones. The overlap made both the diagnosis and the choice of treatment hard. A single case shows what can happen, not how often it happens or what works best.

Who did this work

Margarita Sharova · Evgeniia Klimova · Alexandra Filatova · Mikhail Skoblov · Nikolay Zernov · Svetlana Papizh

Source

Paper · OpenAlex, Kidney disease concept sweep (verified C2778653478) · 2026-09-02
https://doi.org/10.1007/s00467-026-07520-2