A Case of a Compound Heterozygote for Adenine Phosphoribosyltransferase Deficiency (Aprt*J/Aprt*Q0) Leading to 2,8-Dihydroxyadenine Urolithiasis: Review of the Reported Cases with 2,8-Dihydroxyadenine Stones in Japan
- 1 April 1993
- journal article
- case report
- Published by Wolters Kluwer Health in Journal of Urology
- Vol. 149 (4) , 824-826
- https://doi.org/10.1016/s0022-5347(17)36222-5
Abstract
We report a case of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0) leading to 2,8-dihydroxyadenine urolithiasis. Polymerase chain reaction-single strand conformation polymorphism analysis demonstrated that APRT*J and APRT*Q0 alleles from the father and mother, respectively, had been transmitted to the patient. We also reviewed the literature regarding Japanese patients with 2,8-dihydroxyadenine urolithiasis. There seemed to be little difference in clinical course between type 2 homozygotes and compound heterozygotes. However, hemolysate APRT activities of compound heterozygotes were lower than those of type 2 homozygotes.Keywords
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