Abstract
The clinical features of eight cases of primary hyperoxaluria have been summarized. The possibility of different phenotypes is discussed. A reduction, but no normalization, of the oxalate formation during pyridoxine therapy was found. A renal transplantation performed in one of the patients failed because of the formation of nephrocalcinosis.
MeSH terms
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Adolescent
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Adult
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Child
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Child, Preschool
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Female
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Follow-Up Studies
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Glycolates / urine*
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Glyoxylates / urine
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Humans
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Infant
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Kidney Calculi / genetics*
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Kidney Calculi / urine
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Male
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Middle Aged
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Nephrocalcinosis / genetics
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Nephrocalcinosis / urine
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Oxalates / urine*
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Pedigree
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Uremia / genetics
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Uremia / urine
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Ureteral Calculi / genetics
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Ureteral Calculi / urine
Substances
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Glycolates
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Glyoxylates
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Oxalates