In the largest study of its kind to date, comprising 526 patients, the type of mutation in peroxisomal alanine-glyoxylate aminotransferase (AGXT), has been shown to affect the age at which end-stage renal disease (ESRD) is diagnosed in patients with primary hyperoxaluria type 1 (PH1). Median age for ESRD was lowest (9.9 years) in patients with homozygous AGXT null mutations. By contrast, in patients with G170R substitutions in AGXT, median age for ESRD was the highest of the major subgroups (33.9 years), with distinct variations in age of ESRD presentation also detectable for other AGXT mutations. In 43% of patients, ESRD was present at PH1 diagnosis, indicating a need for greater awareness of this condition.
References
Mandrile, G. et al. Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type. Kidney Int. 10.1038/ki.2014.222
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Mutation type dictates primary hyperoxaluria type 1 severity. Nat Rev Nephrol 10, 482 (2014). https://doi.org/10.1038/nrneph.2014.128
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DOI: https://doi.org/10.1038/nrneph.2014.128
