Evidence of true genotype-phenotype correlation in primary hyperoxaluria type 1

Kidney Int. 2010 Mar;77(5):383-5. doi: 10.1038/ki.2009.471.


A genotype-phenotype correlation in patients with primary hyperoxaluria type 1 and specific AGXT mutations has supposedly been found, at least for sensitivity to medication and long-term outcome. Nevertheless, other determinants, such as environmental factors or modifier genes, must play an essential role in the intra- and interfamilial heterogeneity of this disease. Harambat and co-workers report on this situation, presenting data on a major population of genotyped patients.

Publication types

  • Comment

MeSH terms

  • Child
  • Child, Preschool
  • Genetic Heterogeneity
  • Genotype*
  • Humans
  • Hyperoxaluria, Primary / diagnosis
  • Hyperoxaluria, Primary / epidemiology
  • Hyperoxaluria, Primary / genetics*
  • Hyperoxaluria, Primary / metabolism
  • Infant
  • Mutation
  • Phenotype*
  • Transaminases / metabolism


  • Transaminases