Abstract
A 9-month-old child with the skeletal abnormalities of Fuhrmann's syndrome presented with acute renal failure secondary to bilateral renal calculi. Hereditary xanthinuria was shown to be the underlying metabolic defect. Treatment with allopurinol was unsuccessful at reducing the xanthine excretion.
MeSH terms
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Acute Kidney Injury / etiology*
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Allopurinol / therapeutic use
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Antimetabolites / therapeutic use
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Female
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Humans
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Infant
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Kidney Calculi / chemistry
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Kidney Calculi / complications*
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Kidney Calculi / genetics
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Xanthines / chemistry
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Xanthines / metabolism*
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Xanthines / urine
Substances
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Antimetabolites
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Xanthines
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Allopurinol