抄録
In patients with a congenital adenine phosphoribosyltransferase (A-PRTase) deficiency, urolithiasis caused by the formation of 2,8-dihydroxyadenine is observed from infancy. Since 2,8-dihydroxyadenine is very insoluble in water, it is a nephrotoxic, and is now known to cause serious renal insufficiency.
Authors treated a girl with this disease by oral administration of Alositol (from Tanabe Seiyaku Co., Ltd. ), which is an allopurinol preparation. Authors made use of our finding that 2,8-dihydroxyadenine crystals was always excreted in her urine so that the drug's inhibitory effect on the excretion of these crystals could be recognized.
As a result, authors found that a single administration of 2.0 mg/kg allopurinol was insufficient, but that 3.3 to 4.5mg/kg/day would inhibit the excretion of crystals.
It was conculuded therefore that in con g enital A-PRTase deficiency, when 2,8-dihydroxyadenine crystalluria is noted, the necessary dose of allopurinol preparation for the prevention of urolithiasis and renal insufficiency, may constitute a criterion for the effective dose to inhibit the excretion of crystals.
