Renal failure due to 2,8-dihydroxyadenine urolithiasis

Abstract

A four-year-old girl presented in renal failure due to dihydroxyadenine urolithiasis. Prior to this she had been fed a high purine macrobiotic diet, rich in pulses and grain. She was comatose, anuric, requiring peritoneal dialysis, and bilateral radiolucent renal calculi were revealed by ultrasonography and retrograde pyelography. 2,8-dihydroxyadenine stones were found at pyelolithotomy, renal biopsy revealed interstitial birefringent crystals, and a complete lack of adenine phosphoribosyl transferase (APRT) was found subsequently in erythrocyte lysates. APRT levels were initially falsely raised due to a blood transfusion on admission. The mother was shown to have heterozygote levels. The child was treated successfully with allopurinol, and a reduction in dietary purine but with only partial return of renal function.

Animal Model of Adenine-Induced Chronic Renal Failure in Rats

“…A possible pathophysiological mechanism behind this is that excretion of nitrogen compounds is suppressed by renal tubular occlusion due to DHOA [7], This, in turn, leads to accumulation of urea nitrogen and creatinine in the blood, with a resultant increase of var ious guanidino compounds. In support of this conten tion, renal failure has been reported also in human pa tients with DHOA uroliths due to deficient adenine phosphoribosyltransferase [12][13][14][15][16][17].…”

Adenine phosphoribosyltransferase deficiency in children

“…A substantial proportion of patients (up to 15%) is only diagnosed at a late stage, once ESRD has occurred in adulthood [2], after disease recurrence post-transplantation [3,4], or, even worse, after renal transplant failure [5,6]. A timely diagnosis of APRT deficiency is crucial since early treatment with allopurinol can prevent further nephrolithiasis and may stabilize or even improve renal function [7,8]. Given the rarity of the disease, only a few reports limited to single cases presenting the clinical and biological data of APRT deficiency in children are available, especially in the Caucasian population [8][9][10][11].…”

“…A timely diagnosis of APRT deficiency is crucial since early treatment with allopurinol can prevent further nephrolithiasis and may stabilize or even improve renal function [7,8]. Given the rarity of the disease, only a few reports limited to single cases presenting the clinical and biological data of APRT deficiency in children are available, especially in the Caucasian population [8][9][10][11]. Long-term data on treatment outcome are scarce.…”

Adenine Phosphoribosyltransferase Deficiency: An Under-Recognized Cause of Urolithiasis and Renal Failure

“…In affected infants, reddish-brown diaper stains related to 2,8-DHA crystalluria can be observed [1]. In some instances, bilateral 2,8-DHA stones can cause urinary tract obstruction and acute renal failure, especially in children [21,23,24]. 2,8-DHA stones are usually radiolucent and thus can be detected only by imaging techniques capable of detecting radiolucent stones, such as ultrasound or computed tomography.…”