A case of renal hypouricemia due to T217M mutation in SLC22A12 incidentally associated with IgA nephropathy

Abstract

A T217M heterozygous mutation in the SLC22A12 gene caused renal hypouricemia; this patient with IgA nephropathy had no findings other than IgA nephropathy on renal biopsy. Hypouricemia was susceptible to oxidative stress, but IgA nephropathy in the patient with hypouricemia could be treated with steroid pulse therapy without adverse events.

Keywords: IgA nephropathy; renal hypouricemia; steroid pulse therapy; urate transporter.