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Acute renal failure due to xanthine stones
M G Bradbury1, M Henderson, J T Brocklebank
1Academic Unit of Paediatrics and Child Health, St James's University Hospital, Leeds, UK.
Pediatric Nephrology (Berlin, Germany)
|August 1, 1995
Summary
A child with Fuhrmann's syndrome developed acute kidney injury due to kidney stones. The cause was hereditary xanthinuria, but allopurinol treatment failed to reduce xanthine levels.
Area of Science:
- Pediatric Nephrology
- Metabolic Disorders
- Skeletal Dysplasias
Background:
- Fuhrmann's syndrome is a rare skeletal dysplasia.
- Acute renal failure in infants can stem from various causes, including metabolic conditions.
Observation:
- A 9-month-old infant with Fuhrmann's syndrome presented with acute renal failure.
- Bilateral renal calculi (kidney stones) were identified as the cause of renal failure.
Findings:
- Hereditary xanthinuria was diagnosed as the underlying metabolic defect.
- Allopurinol therapy was ineffective in decreasing excessive xanthine excretion.
Implications:
- This case highlights the importance of considering metabolic disorders in infants with skeletal abnormalities and renal complications.
- Further research into alternative or adjunctive therapies for hereditary xanthinuria is warranted.
- Early diagnosis and management of hereditary xanthinuria can potentially prevent severe renal sequelae.