Primary hyperoxaluria (glycolic acid variant): a clinical and genetical investigation of eight cases.
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.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006016:Glycolates / Q000652:urine*; D006038:Glyoxylates / Q000652:urine; D006801:Humans; D007223:Infant; D007669:Kidney Calculi / Q000235:genetics* / Q000652:urine; D008297:Male; D008875:Middle Aged; D009397:Nephrocalcinosis / Q000235:genetics / Q000652:urine; D010070:Oxalates / Q000652:urine*; D010375:Pedigree; D014511:Uremia / Q000235:genetics / Q000652:urine; D014514:Ureteral Calculi / Q000235:genetics / Q000652:urine
D006016:Glycolates; D006038:Glyoxylates; D010070:Oxalates