Clinical Case Reports (Sep 2024)
A case of renal hypouricemia due to T217M mutation in SLC22A12 incidentally associated with IgA nephropathy
- Yoshimasa Sakurabu,
- Haruhito A. Uchida,
- Toshihisa Tahara,
- Tomohiko Asakawa,
- Haruka Yamasaki,
- Katsuyoshi Katayama,
- Shugo Okamoto,
- Yasuhiro Onishi,
- Natsumi Matsuoka‐Uchiyama,
- Keiko Tanaka,
- Hidemi Takeuchi,
- Kenji Tsuji,
- Ryoko Umebayashi,
- Yuki Ohashi,
- Kimiyoshi Ichida,
- Jun Wada
Affiliations
- Yoshimasa Sakurabu
- Department of Nephrology, Rheumatology, Endocrinology and Metabolism Okayama University Faculty of Medicine, Dentistry and Pharmaceutical Sciences Okayama Japan
- Haruhito A. Uchida
- Department of Nephrology, Rheumatology, Endocrinology and Metabolism Okayama University Faculty of Medicine, Dentistry and Pharmaceutical Sciences Okayama Japan
- Toshihisa Tahara
- Department of Nephrology, Rheumatology, Endocrinology and Metabolism Okayama University Faculty of Medicine, Dentistry and Pharmaceutical Sciences Okayama Japan
- Tomohiko Asakawa
- Department of Nephrology, Rheumatology, Endocrinology and Metabolism Okayama University Faculty of Medicine, Dentistry and Pharmaceutical Sciences Okayama Japan
- Haruka Yamasaki
- Department of Nephrology, Rheumatology, Endocrinology and Metabolism Okayama University Faculty of Medicine, Dentistry and Pharmaceutical Sciences Okayama Japan
- Katsuyoshi Katayama
- Department of Nephrology, Rheumatology, Endocrinology and Metabolism Okayama University Faculty of Medicine, Dentistry and Pharmaceutical Sciences Okayama Japan
- Shugo Okamoto
- Department of Nephrology, Rheumatology, Endocrinology and Metabolism Okayama University Faculty of Medicine, Dentistry and Pharmaceutical Sciences Okayama Japan
- Yasuhiro Onishi
- Department of Nephrology, Rheumatology, Endocrinology and Metabolism Okayama University Faculty of Medicine, Dentistry and Pharmaceutical Sciences Okayama Japan
- Natsumi Matsuoka‐Uchiyama
- Department of Nephrology, Rheumatology, Endocrinology and Metabolism Okayama University Faculty of Medicine, Dentistry and Pharmaceutical Sciences Okayama Japan
- Keiko Tanaka
- Department of Nephrology, Rheumatology, Endocrinology and Metabolism Okayama University Faculty of Medicine, Dentistry and Pharmaceutical Sciences Okayama Japan
- Hidemi Takeuchi
- Department of Nephrology, Rheumatology, Endocrinology and Metabolism Okayama University Faculty of Medicine, Dentistry and Pharmaceutical Sciences Okayama Japan
- Kenji Tsuji
- Department of Nephrology, Rheumatology, Endocrinology and Metabolism Okayama University Faculty of Medicine, Dentistry and Pharmaceutical Sciences Okayama Japan
- Ryoko Umebayashi
- Department of Nephrology, Rheumatology, Endocrinology and Metabolism Okayama University Faculty of Medicine, Dentistry and Pharmaceutical Sciences Okayama Japan
- Yuki Ohashi
- Department of Pathophysiology Tokyo University of Pharmacy and Life Sciences Tokyo Japan
- Kimiyoshi Ichida
- Department of Pathophysiology Tokyo University of Pharmacy and Life Sciences Tokyo Japan
- Jun Wada
- Department of Nephrology, Rheumatology, Endocrinology and Metabolism Okayama University Faculty of Medicine, Dentistry and Pharmaceutical Sciences Okayama Japan
- DOI
- https://doi.org/10.1002/ccr3.9368
- Journal volume & issue
-
Vol. 12,
no. 9
pp. n/a – n/a
Abstract
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.
Keywords
