2, 8 Dihydroxyadenine urolithiasis: A case report and review of literature

  • Indian J Nephrol. 2009 Jan;19(1):34-6. doi: 10.4103/0971-4065.50680.
P Sreejith  1 ,  K L Narasimhan ,  V Sakhuja
Affiliations
  • 1. Department of Nephrology, PGIMER, Chandigarh, India.
PMID: 20352011 DOI: 10.4103/0971-4065.50680
Abstract

Adenine phosphoribosyl transferase deficiency is a rare metabolic abnormality presenting with 2,8 dihydroxyadenine urolithiasis. The stones are characteristically radiolucent and therefore need to be differentiated from uric acid stones which are also radiolucent and have identical chemical reactivity. No cases of 2, 8- dihydroxyadenine urolithiasis have been reported from India. We report a 3 year old child with 2, 8- dihydroxyadenine urolithiasis and acute renal failure.

Keywords
2, 8 dihydroxyadenine; Adenine phosphoribosyl transferase deficiency; urolithiasis.
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