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Digenic disease causing variants in a patient with severe nephrocalcinosis

Paper C Peer reviewed Observational

Key takeaways

Doctors report one patient with severe nephrocalcinosis, which means calcium deposits building up inside the kidney. Testing found harmful changes in two different genes at once, not the usual one. This is a single case, so it shows a possible link and not proof of cause. It matters mainly as a reminder that one gene result may not explain the whole picture.

Who did this work

Caitlin Pollock (Newcastle upon Tyne Hospitals NHS Foundation Trust) · Robert Geraghty (Newcastle upon Tyne Hospitals NHS Foundation Trust) · H Mabillard (Newcastle upon Tyne Hospitals NHS Foundation Trust) · John A. Sayer (Newcastle upon Tyne Hospitals NHS Foundation Trust)

Source

Paper · OpenAlex, Kidney disease concept sweep (verified C2778653478) · 2026-09-02
https://doi.org/10.1007/s44162-026-00232-z