Thus, this case report highlights that patients with CYP24A1 defect (a) can be challenging to diagnose, especially in CKD with secondary/tertiary hyperparathyroidism counterbalancing the effects of CYP24A1 variants, and (b) can display nephrolithiasis recurrence even after graft with a kidney with intact CYP24A1 function. This evidence concerns the gene CYP24A1 and chronic kidney disease.