Richard Sibley

Publication Details

  • ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY WITH RENAL DEPOSITION OF 2,8-DIHYDROXYADENINE LEADING TO NEPHROLITHIASIS AND CHRONIC-RENAL-FAILURE ARCHIVES OF INTERNAL MEDICINE Fye, K. H., Sahota, A., Hancock, D. C., Gelb, A. B., Chen, J., Sparks, J. W., Sibley, R. K., Tischfield, J. A. 1993; 153 (6): 767-770

    Abstract:

    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.

    View details for Web of Science ID A1993KR99600011

    View details for PubMedID 8447714

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