625 Late Onset Cysteinuria in a 67 Year Old Male: A Case Report

Résumé fourni par la source

Abstract Cysteinuria is an autosomal recessive condition that presents with recurrent urolithiasis. Mutations in genes SLC3A1 and SLC7A9 result in defective reabsorption of cysteine, ornithine, lysine and arginine, increasing urinary excretion of cysteine and resulting in cysteine stone formation. Cysteinuria is considered the most common genetic condition that results in recurrent urolithiasis, accounting for 6-8% of paediatric urolithiasis and 1% of adult cases. Cysteinuria is typically diagnosed in adolescence, with first stone event occurring at a median age of 18.5 years. Here we report a case of late onset cysteinuria in a 67 year old male, one of the oldest patients in the literature to be diagnosed. The patient presented with left sided flank pain and a non-contrast CT urinary tract confirmed multiple left renal calculi and proximal ureteric calculi with associated hydronephrosis. Ureteroscopy and laser lithotripsy revealed dense, resistant calculi, and stone analysis confirmed 100% cysteine composition. This case highlights that older patients with recurrent or resistant urolithiasis should have a diagnosis of cysteinuria considered. Management should focus on prevention of calculi via fluid and dietary advice or urinary alkalisation with potassium citrate or sodium bicarbonate as calculi associated with cysteinuria often require multiple surgical interventions.

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