TY  - EJOU
AU  - Zambudio-Munuera, Alberto 
AU  - Cano-Garcia, María del Carmen 
AU  - Navarro-Garcia, Africa 
AU  - Martin-Rodriguez, Jose Luis 
AU  - Arrabal-Polo, Miguel Angel 

TI  - Beckwith–Wiedemann syndrome and medullary sponge kidney: a case report of two rare but related entities
T2  - Canadian Journal of Urology

PY  - 
VL  - 
IS  - 
SN  - 1488-5581

AB  -  <b>Background:</b> Beckwith–Wiedemann syndrome (BWS) is a congenital overgrowth disorder that may be associated with renal abnormalities, although benign renal manifestations presenting in adulthood are less well characterized. <b>Case description:</b> We report the case of a 20-year-old woman with genetically confirmed BWS who was diagnosed with medullary sponge kidney (MSK) during adulthood after imaging evaluation for suspected renal abnormalities. Contrast-enhanced computed tomography and intravenous urography demonstrated characteristic medullary collecting duct dilatation with nephrocalcinosis, consistent with MSK, associated with hypercalciuria and hypocitraturia. Medical management with thiazide diuretics and potassium citrate achieved metabolic control and stable imaging findings. <b>Conclusion:</b> This case highlights the importance of considering MSK in patients with BWS and underscores the role of appropriate imaging and metabolic evaluation for accurate diagnosis and long-term management.
KW  - Cacchi-Ricci disease; Beckwith-Wiedemann syndrome; kidney anomalies; case report

DO  - 10.32604/cju.2026.077945