A case of renal hypouricemia due to T217M mutation in SLC22A12 incidentally associated with IgA nephropathy.
Yoshimasa SakurabuHaruhito A UchidaToshihisa TaharaTomohiko AsakawaHaruka YamasakiKatsuyoshi KatayamaShugo OkamotoYasuhiro OnishiNatsumi Matsuoka-UchiyamaKeiko TanakaHidemi TakeuchiKenji TsujiRyoko UmebayashiYuki OhashiKimiyoshi IchidaJun WadaPublished in: Clinical case reports (2024)
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.