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[Two siblings with 2,8-dihydroxyadenine urolithiasis]
T Kambayashi1, T Nakanishi, K Suzuki
1Department of Urology, Iwata Municipal Hospital.
Insights
Allopurinol effectively treated 2,8-dihydroxyadenine urolithiasis in two children for over seven years. This therapy, without purine restriction, prevented stone recurrence and maintained normal growth and renal function.
Area of Science:
- Nephrology
- Genetics
- Pharmacology
Background:
- 2,8-dihydroxyadenine urolithiasis is a rare inherited metabolic disorder.
- It results from deficient adenine phosphoribosyltransferase (APRT) activity, leading to stone formation.
- Early diagnosis and management are crucial to prevent renal damage.
Observation:
- Two siblings with 2,8-dihydroxyadenine urolithiasis were treated for over 7 years.
- The male patient presented with anuria due to bilateral urinary stones.
- The female sibling also developed a renal stone.
Findings:
- Both children received allopurinol therapy (5.0 mg/kg/day and 3.3 mg/kg/day, respectively) without dietary purine restriction.
- Allopurinol treatment led to normal growth in both children.
- No stone recurrence or renal impairment was observed during the treatment period.
Implications:
- Allopurinol is a safe and effective treatment for 2,8-dihydroxyadenine urolithiasis.
- Dietary purine restriction is not necessary when using allopurinol for this condition.
- Long-term allopurinol therapy can prevent stone recurrence and preserve renal function in affected individuals.
Abstract:
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.