Primary hyperoxaluria (glycolic acid variant): a clinical and genetical investigation of eight cases

Ups J Med Sci. 1978;83(1):65-70. doi: 10.3109/03009737809179114.

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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Female
  • Follow-Up Studies
  • Glycolates / urine*
  • Glyoxylates / urine
  • Humans
  • Infant
  • Kidney Calculi / genetics*
  • Kidney Calculi / urine
  • Male
  • Middle Aged
  • Nephrocalcinosis / genetics
  • Nephrocalcinosis / urine
  • Oxalates / urine*
  • Pedigree
  • Uremia / genetics
  • Uremia / urine
  • Ureteral Calculi / genetics
  • Ureteral Calculi / urine

Substances

  • Glycolates
  • Glyoxylates
  • Oxalates