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Adenine phosphoribosyltransferase deficiency with renal deposition of 2,8-dihydroxyadenine leading to nephrolithiasis and chronic renal failure
- Source :
- Archives of Internal Medicine. March 22, 1993, Vol. 153 Issue 6, p767, 4 p.
- Publication Year :
- 1993
-
Abstract
- Homozygous adenine phosphoribosyltransferase deficiency is a genetic defect that is assofciated 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.
Details
- ISSN :
- 00039926
- Volume :
- 153
- Issue :
- 6
- Database :
- Gale General OneFile
- Journal :
- Archives of Internal Medicine
- Publication Type :
- Periodical
- Accession number :
- edsgcl.13700815