Primer caso de cistinuria asociada a enfermedad de Cacchi Ricci como causa de nefrolitiasis recurrente

Cystinuria is a genetic disease whose clinical expression is the formation of stones in the urinary tract. This article presents the case of a man of 24 years with a history of bilateral stone disease since he was 15 years old with multiple recurrences and interventions. He was admitted to our hospital seeking treatment for left nephrolithiasis; during the initial assessment, computed tomography of the abdomen and pelvis was performed finding intraparenchymal calcifications within bilateral renal pyramids with cystic pre-calyceal dilations. The diagnosis of medullary sponge kidney was made. He underwent a first session of percutaneous nephrolithotomy, planning more sessions and complementing them with flexible ureteroscopy and laser fragmentation. However, the 24-hour urine analysis showed cistinuria, with a composition of cystine in the stones of 83%. For this reason, taking into account the association of genetic and anatomical alterations we decided to maintain him under observation by entering into a plan of early renal transplantation. To our knowledge, this corresponds to the first case report associating Cacchi Ricci disease and cystinuria.