Family Study of 2,8‐Dihydroxyadenine Stone Formation: Report of Two Cases of a Compound Heterozygote for Adenine Phosphoribosyltransferase Deficiency (APRT*J/APRT*QO)
1997; Wiley; Volume: 4; Issue: 3 Linguagem: Inglês
10.1111/j.1442-2042.1997.tb00195.x
ISSN1442-2042
AutoresKoji Suzuki, S. Kobayashi, Kenji Kawamura, Tomiko Kuhara, Ryuzo Tsugawa,
Tópico(s)Adolescent and Pediatric Healthcare
ResumoThe 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.
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