A case of renal hypouricemia due to T 217 M mutation in SLC 22 A 12 incidentally associated with I g A nephropathy

Key Clinical Message 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 coul...

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Published inClinical case reports Vol. 12; no. 9
Main Authors Sakurabu, Yoshimasa, Uchida, Haruhito A., Tahara, Toshihisa, Asakawa, Tomohiko, Yamasaki, Haruka, Katayama, Katsuyoshi, Okamoto, Shugo, Onishi, Yasuhiro, Matsuoka‐Uchiyama, Natsumi, Tanaka, Keiko, Takeuchi, Hidemi, Tsuji, Kenji, Umebayashi, Ryoko, Ohashi, Yuki, Ichida, Kimiyoshi, Wada, Jun
Format Journal Article
LanguageEnglish
Published 01.09.2024
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Summary:Key Clinical Message 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.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.9368