Metabolic origin is a major cause of recurrent nephrolithiasis in children besides the other causes of urinary stones. Xanthine stones are associated with an excessive synthesis of purines or error of their metabolism. Clinical symptoms may include crystalluric urolithiasis and acute renal failure. In case unrecognized, xanthinuria can lead to nephrectomy or end-stage renal failure. We report a urolithiasis observation revealing a family xanthinuria.
A 3-year-old boy was referred to the Department of Pediatrics for isolated abdominal pain, lasting for 15 days and being treated symptomatically without improvement. His clinical examination was normal. The plain abdominal X-ray showed the absence of radiopaque stones. Ultrasonography evaluation of the urinary tract showed a proximal ureteral stone of 8 mm of diameter with important distension of the intra-renal collecting system.