Urolithiasis in a Large Kindred Deficient in Adenine Phosphoribosyltransferase (Aprt)
Dihydroxyadenine urolithiasis was first described in 1974 by Cartier et al1 and confirmed by Simmonds et al.2. The subject has been recently reviewed3,4. The poorly soluble purine, 2,8-dihydroxyadenine, appears in urine when there is a homozygous deficiency of adenine phosphoribosyltransferase (APRT). Calculus formation, crystal type nephrotoxicity and renal failure have been described, mainly in children. 0f 20 patients reported with dihydroxyadenine calculi3-8, including the family to be discussed, the onset of symptoms was under 4 years in 11 and under 10 years in all but 4, 3 of whom were from Japan. Patients commonly present with symptoms of urinary obstruction such as abdominal or flank pain, but also with frequent passage of small stones, macrohematuria, urinary tract infection and renal failure3,4.
KeywordsAdenosine Adenine Purine Xanthine Monophosphate
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