Primary hyperoxaluria: a rare but important cause of nephrolithiasis

Hong Kong Med J. 2002 Jun;8(3):202-6.

Abstract

We report on a middle-aged man with end-stage renal failure apparently secondary to recurrent renal stones. He developed systemic oxalosis soon after commencing dialysis. The diagnosis of primary hyperoxaluria type 1 was supported by the finding of high dialysate glycolate excretion. The patient subsequently received an isolated cadaveric renal transplant, but the outcome was a rapid recurrence of oxalosis and early graft failure. Although isolated liver or renal transplantation in addition to various adjuvant measures may be considered in the early stage, combined liver-kidney transplantation remains the only definitive therapy for a patient with end-stage renal failure and systemic oxalosis due to hyperoxaluria type 1. This case illustrates the possible late presentation of primary hyperoxaluria type 1 and the poor outcome with isolated renal transplantation after the development of systemic oxalosis. One should thus have a high index of suspicion in patients with recurrent renal stones of this rare, but nevertheless important, entity.

Publication types

  • Case Reports

MeSH terms

  • Humans
  • Hyperoxaluria, Primary / complications*
  • Hyperoxaluria, Primary / diagnosis
  • Hyperoxaluria, Primary / pathology
  • Kidney / pathology
  • Kidney Calculi / etiology*
  • Kidney Calculi / surgery
  • Kidney Failure, Chronic / etiology
  • Kidney Transplantation
  • Male
  • Middle Aged
  • Recurrence
  • Renal Dialysis
  • Transplantation, Homologous