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.
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.
Takeuchi
H
H
Department of Urology, Faculty of Medicine, Kyoto University, Japan.
Kaneko
Y
Y
Fujita
J
J
Yoshida
O
O
D000225:Adenine / Q000031:analogs & derivatives* / Q000032:analysis; D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007564:Japan / Q000453:epidemiology; D008297:Male; D016133:Polymerase Chain Reaction; D014545:Urinary Calculi / Q000737:chemistry / Q000453:epidemiology / Q000235:genetics*
C002993:2,8-dihydroxyadenine; D000228:Adenine Phosphoribosyltransferase; D000225:Adenine