Adenine phosphoribosyltransferase deficiency with renal deposition of 2,8-dihydroxyadenine leading to nephrolithiasis and chronic renal failure.

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.

• Authors: K H Fye, A Sahota, D C Hancock, A B Gelb, J Chen, J W Sparks, R K Sibley, J A Tischfield
• Journal: Archives of internal medicine (Arch Intern Med) Vol. 153 Issue 6 Pg. 767-70 (Mar 22 1993) ISSN: 0003-9926 [Print] United States
• PMID: 8447714 (Publication Type: Case Reports, Journal Article, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• 2,8-dihydroxyadenine
• Adenine Phosphoribosyltransferase
• Adenine

Topics

• Adenine (analogs & derivatives, metabolism)
• Adenine Phosphoribosyltransferase (deficiency)
• Heterozygote
• Humans
• Kidney (enzymology, metabolism)
• Kidney Calculi (enzymology, metabolism)
• Kidney Failure, Chronic (enzymology, metabolism)
• Male
• Middle Aged