Late onset primary oxalosis type I: an uncommon presentation of a rare disease

Eur J Gastroenterol Hepatol. 1998 Sep;10(9):809-12. doi: 10.1097/00042737-199809000-00016.

Abstract

A 46-year-old woman developed rapidly worsening renal insufficiency. Extensive calcification of the kidneys was found. The patient also suffered from ischaemic neuropathy, myopathy and arthritis. In a muscle biopsy multiple calcium oxalate crystals could be demonstrated surrounded by inflammatory infiltrates. Levels of oxalate in serum were markedly elevated. Diagnosis of primary hyperoxaluria type I was made by measuring alanine/glyoxylate aminotransferase activity in a liver biopsy. The patient underwent kidney transplantation twice, but each of the transplants failed after a very short time owing to hyperacute rejection and rupture of the organ, respectively. Eventually, combined liver/kidney transplantation was successfully performed. Two years after the transplantation, both organs work with good function. This case of primary hyperoxaluria type I is remarkable for the late onset of symptoms and the extensive involvement of other organ systems in addition to the kidneys. This case presentation confirms previous reports discouraging isolated kidney transplantation for patients with primary hyperoxaluria. Only combined liver/kidney transplantation can correct the metabolic defect and may give these patients superior long-term benefit.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Humans
  • Hyperoxaluria, Primary / diagnosis*
  • Hyperoxaluria, Primary / therapy
  • Kidney Transplantation
  • Liver Transplantation
  • Middle Aged
  • Muscles / chemistry
  • Oxalic Acid / analysis
  • Tomography, X-Ray Computed

Substances

  • Oxalic Acid