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Family Study of 2,8‐Dihydroxyadenine Stone Formation: Report of Two Cases of a Compound Heterozygote for Adenine Phosphoribosyltransferase Deficiency (APRT*J/APRT*QO)
Author(s) -
Suzuki Koji,
Kobayashi Shigeyuki,
Kawamura Kenji,
Kuhara Tomiko,
Tsugawa Ryuzo
Publication year - 1997
Publication title -
international journal of urology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.172
H-Index - 67
eISSN - 1442-2042
pISSN - 0919-8172
DOI - 10.1111/j.1442-2042.1997.tb00195.x
Subject(s) - adenine phosphoribosyltransferase , allopurinol , medicine , heterozygote advantage , urinary system , compound heterozygosity , genotype , genetics , enzyme , biochemistry , mutation , chemistry , biology , gene , purine
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*QO), 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.