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Renal failure due to 2,8-dihydroxyadenine urolithiasis
European Journal of Pediatrics
|July 1, 1982
Summary
A child developed kidney failure from 2,8-dihydroxyadenine stones due to a rare enzyme deficiency (adenine phosphoribosyl transferase). Treatment involved medication and diet change, with partial recovery of kidney function.
Area of Science:
- Pediatric Nephrology
- Metabolic Disorders
- Urolithiasis
Background:
- Dietary purine intake can influence urolithiasis.
- Rare enzyme deficiencies can lead to severe medical conditions.
- Adenine phosphoribosyl transferase (APRT) deficiency is a rare metabolic disorder.
Observation:
- A four-year-old girl presented with anuria and renal failure.
- Imaging revealed bilateral radiolucent renal calculi.
- The patient had been on a high-purine macrobiotic diet.
Findings:
- 2,8-dihydroxyadenine stones were identified.
- Complete deficiency of adenine phosphoribosyl transferase (APRT) was confirmed in erythrocyte lysates.
- The mother exhibited heterozygote levels for APRT deficiency.
Implications:
- Early diagnosis and intervention are crucial for managing APRT deficiency.
- Dietary modifications are essential alongside medical treatment.
- Successful treatment with allopurinol highlights its therapeutic potential.