Evidence of true genotype-phenotype correlation in primary hyperoxaluria type 1.
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.
Hoppe
Bernd
B
Division of Pediatric Nephrology, Department of Pediatrics, University Hospital Cologne, Cologne, Germany. bernd.hoppe@uk-koeln.de
D002648:Child; D002675:Child, Preschool; D018740:Genetic Heterogeneity; D005838:Genotype; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D007223:Infant; D009154:Mutation; D010641:Phenotype; D000637:Transaminases / Q000378:metabolism
D000637:Transaminases