title: Factors influencing clinical outcome in patients with primary hyperoxaluria type 1.
abstract: The renal outcome in patients with primary hyperoxaluria type 1 is partly determined by AGXT mutations, including but not limited to the p.Gly170Arg mutation. The study by Mandrile et al. reports on the largest cohort of patients genotyped yet, with long-term renal survival and medical treatment by pyridoxine. In addition to the common p.Gly170Arg mutation, three other mutations were shown to be potentially associated with slower evolution.
authors.affiliation: Department of Urology, University of Alabama at Birmingham, Birmingham, Alabama, USA.
authors.forename: Sonia
authors.initials: S
authors.lastname: Fargue
mesh_terms: D005260:Female; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000235:genetics*; D007676:Kidney Failure, Chronic / Q000209:etiology*; D008297:Male; D009154:Mutation; D000637:Transaminases / Q000235:genetics*
chemical_list: D000637:Transaminases