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

Abstract

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. © 2010 International Society of Nephrology.