The Primary Hyperoxalurias

Amy E Bobrowski*, Craig Langman

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

26 Scopus citations

Abstract

The primary hyperoxalurias (PHs) are rare autosomal-recessive inborn errors of metabolism. In the most severe form (type 1), recurrent kidney stones and progressive nephrocalcinosis lead to the loss of kidney function, accompanied by systemic oxalosis, and often requires dialysis and/or transplantation. The variety of genetic mutations leading to PH increasingly are being defined, resulting in the ability to diagnose most patients accurately via minimally invasive means. During and after definitive diagnosis, supportive therapies with pyridoxine supplementation, urinary crystallization inhibitors, and hydration should be used, but have varying success. Emerging information about the renal tubular and intestinal transport of oxalate is leading to increasing evidence to support the use of oxalate-degrading bacteria (probiotics) and enzymes in the treatment of PH. Organ transplantation historically has offered the only potential cure for PH, and may include kidney-alone, combined liver-kidney, or pre-emptive liver-alone transplantation. Exciting new approaches in the treatment of type 1 PH, however, are under investigation. These include the restoration of defective enzymatic activity through the use of chemical chaperones, hepatocyte cell transplantation, or enzyme replacement by recombinant gene therapy. These novel approaches illustrate the goal for the ideal treatment of PH: correcting the genetic defect without exposing patients to the life-long risks associated with organ transplantation.

Original languageEnglish (US)
Pages (from-to)152-162
Number of pages11
JournalSeminars in nephrology
Volume28
Issue number2
DOIs
StatePublished - Mar 1 2008

Keywords

  • Alanine:glyoxylate aminotransferase
  • glyoxylate reductase/hydroxypyruvate reductase
  • hyperoxaluria
  • kidney stones
  • peroxisomal disorders
  • probiotics
  • pyridoxine
  • systemic oxalosis

ASJC Scopus subject areas

  • Nephrology

Fingerprint Dive into the research topics of 'The Primary Hyperoxalurias'. Together they form a unique fingerprint.

Cite this