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[Two siblings with 2,8-dihydroxyadenine urolithiasis]

T Kambayashi1, T Nakanishi, K Suzuki

  • 1Department of Urology, Iwata Municipal Hospital.

Hinyokika Kiyo. Acta Urologica Japonica
|December 1, 1994
PubMed
Summary

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.

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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.

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  • 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.