Is there a genotype-phenotype correlation in primary hyperoxaluria type 1?

Kidney Int. 2006 Sep;70(6):984-6. doi: 10.1038/sj.ki.5001797.

Abstract

There is ongoing debate about a genotype-phenotype correlation in patients with primary hyperoxaluria type 1 and specific AGXT mutations. However, other determinants like environmental factors or modifer genes may play a pivotal role in the heterogeneity of the disease. The report of Lorenzo and co-workers highlights this situation, presenting data of a whole population with just one specific AGXT mutation.

Publication types

  • Comment

MeSH terms

  • Genotype*
  • Humans
  • Hyperoxaluria, Primary / diagnosis*
  • Hyperoxaluria, Primary / epidemiology
  • Hyperoxaluria, Primary / genetics*
  • Hyperoxaluria, Primary / metabolism
  • Hyperoxaluria, Primary / mortality
  • Hyperoxaluria, Primary / pathology
  • Models, Biological
  • Mutation
  • Phenotype*
  • Prevalence
  • Prognosis
  • Survival Analysis
  • Transaminases / genetics*
  • Urinary Calculi / etiology
  • Urinary Calculi / pathology

Substances

  • Transaminases
  • Alanine-glyoxylate transaminase