Two siblings with 2,8-dihydroxyadenine urolithiasis

We treated two children with 2,8-dihydroxyadenine urolithiasis for over 7 years. The male prepositus was admitted to the hospital because of anuria when he was 10 months old. Bilateral urinary stones had caused the anuria. The stones were 2,8-dihydroxyadenine and his APRT activity was low. He has be...

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Veröffentlicht in:Hinyokika kiyo. Acta urologica Japonica. - 1962. - 40(1994), 12 vom: 05. Dez., Seite 1097-101
1. Verfasser: Kambayashi, T (VerfasserIn)
Weitere Verfasser: Nakanishi, T, Suzuki, K, Fujita, K, Tajima, A, Kawabe, K
Format: Aufsatz
Sprache:Japanese
Veröffentlicht: 1994
Zugriff auf das übergeordnete Werk:Hinyokika kiyo. Acta urologica Japonica
Schlagworte:Case Reports English Abstract Journal Article Review 2,8-dihydroxyadenine 30377-37-8 Adenine Phosphoribosyltransferase EC 2.4.2.7 Adenine JAC85A2161
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520 |a We treated two children with 2,8-dihydroxyadenine urolithiasis for over 7 years. The male prepositus was admitted to the hospital because of anuria when he was 10 months old. Bilateral urinary stones had caused the anuria. The stones were 2,8-dihydroxyadenine and his APRT activity was low. He has been treated with about 5.0 mg/kg/day of allopurinol without purine diet restriction. His sister, 3 years old at that time, also was found to have a renal stone. She has been treated with about 3.3 mg/kg/day of allopurinol without restricting purine. The allopurinol therapy without purine-restriction resulted in normal growth of both children with neither the recurrence of stone nor renal impairment 
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