Hereditary Xanthinuria with Recurrent Urolithiasis Occurring in Infancy

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.


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