2,8-Dihydroxyadenine is a derivative of adenine which accumulates in 2,8 dihydroxy-adenine urolithiasis.
The poorly soluble purine 2,8-dihydroxyadenine is excreted in the urine because of a deficiency in the adenine salvage enzyme adenine phosphoribosyltransferase.
The defect is inherited as an autosomal recessive trait; the homozygous state is associated with high urinary levels of 2,8-dihydroxyadenine and with crystalluria, calculus formation, and potential nephrotoxicity.
The condition primarily presents as renal obstructive disease, but some patients have presented with advanced kidney failure.
2, 8-dihydroxyadenine formation can be easily controlled with allopurinol, which is administered in a dose of 300 mg/day in adults (10 mg/kg/day in children) in the absence of kidney failure.