Dihydroxyadenine stone with adenine phosphoribosyltransferase deficiency: A case report

2,8-Dihydroxyadenine stone formation in a renal transplant recipient due to adenine phosphoribosyltransferase deficiency.

Adenine Phosphoribosyltransferase Deficiency: A Rare Cause of Recurrent Urolithiasis

Background: Recurrent urolithiasis is troublesome for both patient and clinician, and in most cases, an underlying cause is not found. An important and underdiagnosed cause is adenine phosphoribosyltransferase (APRT) deficiency that gives rise to 2,8-dihydroxyadenine (2,8-DHA) stones. If diagnosed early, patient morbidity as well as the financial cost of treating stone recurrence can be avoided...

Adenine phosphoribosyltransferase deficiency as a rare cause of renal allograft dysfunction.

Adenine phosphoribosyltransferase deficiency is a rare autosomal recessive disorder manifesting as urolithiasis or crystalline nephropathy. It leads to the generation of large amounts of poorly soluble 2,8-dihydroxyadenine excreted in urine, yielding kidney injury and in some patients, kidney failure. Early recognition of the disease, institution of xanthine analog therapy to block the formatio...

2,8-Dihydroxyadeninuria-induced progressive renal failure

Adenine phosphoribosyl-transferase (APRT) is the key enzyme that transforms adenine into adenylate monophosphate (AMP). In case of APRT deficiency, xanthine oxidase rapidly oxidizes adenine into 2,8-dihydroxyadenine (2,8-DHA), which is then eliminated by the kidneys through tubular secretion. 2,8-DHA is insoluble at a physiologic range of pH; therefore, it can easily precipitate in the urine. A...

[2,8-dihydroxyadenine nephrolithiasis: from diagnosis to therapy].

Adenine phosphoribosyltransferase (APRT, EC 2.4.2.7) deficiency is an enzymopathy of purine metabolism, which is inherited as an autosomal recessive trait. APRT is a salvage enzyme that normally catalyzes the conversion of adenine to adenosine monophosphate. APRT deficiency results in adenine accumulation with oxidation by xanthine dehydrogenase (XDH; EC 1.1.1.204) to 2,8-dihydroxyadenine (2,8-...