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March 22, 1993

Adenine Phosphoribosyltransferase Deficiency With Renal Deposition of 2,8-Dihydroxyadenine Leading to Nephrolithiasis and Chronic Renal Failure

Author Affiliations

From the Department of Medicine, University of California Medical School, San Francisco (Drs Fye and Hancock), the Department of Pathology, Stanford (Calif) University Hospital (Drs Gelb and Sibley), the Department of Geology, Stanford University (Dr Sparks), and the Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis (Drs Sahota and Tischfield and Mr Chen).

Arch Intern Med. 1993;153(6):767-770. doi:10.1001/archinte.1993.00410060071011

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)