Factors influencing clinical outcome in patients with primary hyperoxaluria type 1.
Level V
Where this comes from
- Record sourced from PubMed, PMID 25427081.
- Also identified by DOI 10.1038/ki.2014.280.
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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.
Medical subject headings
- Hyperoxaluria, Primary
- Kidney Failure, Chronic
- Mutation
- Transaminases