Family study of 2,8-dihydroxyadenine stone formation: report of two cases of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0)

Int J Urol. 1997 May;4(3):304-6. doi: 10.1111/j.1442-2042.1997.tb00195.x.

Abstract

The family members of 2 formers of 2,8-dihydroxyadenine stones were examined for history, adenine phosphoribosyltransferase (APRT) activity, genotype, urinary sediment, and urinary constituents. The patients' father showed a genotype of APRT*1/APRT*Q0, and their mother showed APRT*1/APRT*J. Patients 1 and 2 were compound heterozygotes for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0), and APRT activities were 4.5% and 4.0% of normal, respectively. 2,8-Dihydroxyadenine crystals could be seen in the urinary sediment. Treatment with allopurinol completely stopped new stone formation for 5 years in patient 1.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenine / analogs & derivatives*
  • Adenine / metabolism
  • Adenine Phosphoribosyltransferase / deficiency*
  • Adenine Phosphoribosyltransferase / genetics
  • Adult
  • Family Health
  • Female
  • Genotype
  • Humans
  • Kidney Calculi / chemistry
  • Kidney Calculi / enzymology*
  • Kidney Calculi / genetics*
  • Male
  • Pedigree
  • Urine / chemistry

Substances

  • 2,8-dihydroxyadenine
  • Adenine Phosphoribosyltransferase
  • Adenine