Commentary
Kidney International (2006) 70, 984–986. doi:10.1038/sj.ki.5001797
Is there a genotype–phenotype correlation in primary hyperoxaluria type 1?
1Division of Pediatric Nephrology, University Children's Hospital, Cologne, Germany
Correspondence: B Hoppe, Division of Pediatric Nephrology, University Children's Hospital, Kerpener Strasse 62, D-50937 Cologne, Germany. E-mail: Bernd.Hoppe@uk-koeln.de
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.
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