Homozygous adenine phosphoribosyltransferase deficiency is a genetic defect that is associated with 2,8-dihydroxyadenine urolithiasis. Since the prevalence of the heterozygous state is found in 0.4% to 1.2% of the population, it is surprising that more cases of 2,8-dihydroxyadenine urolithiasis have not been reported. Herein we describe a patient with complete adenine phosphoribosyltransferase deficiency with 2,8-dihydroxyadenine urolithiasis leading to chronic renal failure. Gene sequencing revealed that the patient is a compound heterozygote. One of the mutations (a T insertion between bases 346 and 347) has been encountered before, but the second (a G-to-A substitution at base 1356) has not been previously reported. Possible explanations for the unexpected rarity of 2,8-dihydroxyadenine urolithiasis are discussed.
(Arch Intern Med. 1993;153:767-770)
Fye KH, Sahota A, Hancock DC, et al. Adenine Phosphoribosyltransferase Deficiency With Renal Deposition of 2,8-Dihydroxyadenine Leading to Nephrolithiasis and Chronic Renal Failure. Arch Intern Med. 1993;153(6):767–770. doi:10.1001/archinte.1993.00410060071011
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