title: 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.affiliation: Department of Medicine, University of California Medical School, San Francisco.
authors.forename: K H
authors.initials: KH
authors.lastname: Fye
authors.forename: A
authors.initials: A
authors.lastname: Sahota
authors.forename: D C
authors.initials: DC
authors.lastname: Hancock
authors.forename: A B
authors.initials: AB
authors.lastname: Gelb
authors.forename: J
authors.initials: J
authors.lastname: Chen
authors.forename: J W
authors.initials: JW
authors.lastname: Sparks
authors.forename: R K
authors.initials: RK
authors.lastname: Sibley
authors.forename: J A
authors.initials: JA
authors.lastname: Tischfield
mesh_terms: D000225:Adenine / Q000031:analogs & derivatives* / Q000378:metabolism; D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency*; D006579:Heterozygote; D006801:Humans; D007668:Kidney / Q000201:enzymology / Q000378:metabolism*; D007669:Kidney Calculi / Q000201:enzymology* / Q000378:metabolism; D007676:Kidney Failure, Chronic / Q000201:enzymology* / Q000378:metabolism; D008297:Male; D008875:Middle Aged
chemical_list: C002993:2,8-dihydroxyadenine; D000228:Adenine Phosphoribosyltransferase; D000225:Adenine