Factors influencing clinical outcome in patients with primary hyperoxaluria type 1

Kidney Int. 2014 Dec;86(6):1074-6. doi: 10.1038/ki.2014.280.

Abstract

The renal outcome in patients with primary hyperoxaluria type 1 is partly determined by AGXT mutations, including but not limited to the p.Gly170Arg mutation. The study by Mandrile et al. reports on the largest cohort of patients genotyped yet, with long-term renal survival and medical treatment by pyridoxine. In addition to the common p.Gly170Arg mutation, three other mutations were shown to be potentially associated with slower evolution.

Publication types

  • Comment

MeSH terms

  • Female
  • Humans
  • Hyperoxaluria, Primary / genetics*
  • Kidney Failure, Chronic / etiology*
  • Male
  • Mutation*
  • Transaminases / genetics*

Substances

  • Transaminases