Activity of Adenine Phosphoribosyltransferase (Aprt) in Patients with Renal Failure and Urolithiasis

The common clinical manifestation of complete APRT-deficiency is 2,8-dihydroxyadenine (2,8-DHA) urolithiasis. Acute and chronic renal failure have also been reported1. On the other hand, homozygotes, either with late onset2or without symptoms3, have been described. Heterozygous patients are usually symptom-free and only occasionally form stones. It has been suggested that APRT-deficiency might not be a rare disease and is often overlooked in patients with renal failure or urolithiasis1. Thus, screening for APRT-deficiency in these patients seemed worthwhile.