Renal Fanconi syndrome and vitamin D deficiency: chicken or egg?
Pediatr NephrolMay 2, 2026 (epub)
Samia Zerrouki, Gonenc Soyalp, Lucie Taillandier et al.
✦ AI-curated · Sources linked
Case in brief
Two pediatric cases of renal Fanconi syndrome (RFS) were identified, both presenting with clinical rickets unresponsive to cholecalciferol supplementation. Biochemical evaluations revealed metabolic acidosis, aminoaciduria, and urinary phosphate wasting indicative of proximal tubular dysfunction. Treatment with active vitamin D led to resolution of symptoms, suggesting a link between vitamin D deficiency and RFS.
Diagnostic / clinical pearl
Clinicians should consider vitamin D deficiency as a potential underlying cause in cases of renal Fanconi syndrome, especially when rickets is resistant to standard supplementation.