A case of renal hypouricemia due to T217M mutation in SLC22A12 incidentally associated with IgA 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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| Format: | Article |
| Language: | English |
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Wiley
2024-09-01
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| Series: | Clinical Case Reports |
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| Online Access: | https://doi.org/10.1002/ccr3.9368 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Yoshimasa Sakurabu |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-6c1a6de5ee8645e19a6e9ef28f385b28 |
| institution | Kabale University |
| issn | 2050-0904 |
| language | English |
| publishDate | 2024-09-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj-art-6c1a6de5ee8645e19a6e9ef28f385b282024-12-12T10:13:45ZengWileyClinical Case Reports2050-09042024-09-01129n/an/a10.1002/ccr3.9368A case of renal hypouricemia due to T217M mutation in SLC22A12 incidentally associated with IgA nephropathyYoshimasa Sakurabu0Haruhito A. Uchida1Toshihisa Tahara2Tomohiko Asakawa3Haruka Yamasaki4Katsuyoshi Katayama5Shugo Okamoto6Yasuhiro Onishi7Natsumi Matsuoka‐Uchiyama8Keiko Tanaka9Hidemi Takeuchi10Kenji Tsuji11Ryoko Umebayashi12Yuki Ohashi13Kimiyoshi Ichida14Jun Wada15Department of Nephrology, Rheumatology, Endocrinology and Metabolism Okayama University Faculty of Medicine, Dentistry and Pharmaceutical Sciences Okayama JapanDepartment of Nephrology, Rheumatology, Endocrinology and Metabolism Okayama University Faculty of Medicine, Dentistry and Pharmaceutical Sciences Okayama JapanDepartment of Nephrology, Rheumatology, Endocrinology and Metabolism Okayama University Faculty of Medicine, Dentistry and Pharmaceutical Sciences Okayama JapanDepartment of Nephrology, Rheumatology, Endocrinology and Metabolism Okayama University Faculty of Medicine, Dentistry and Pharmaceutical Sciences Okayama JapanDepartment of Nephrology, Rheumatology, Endocrinology and Metabolism Okayama University Faculty of Medicine, Dentistry and Pharmaceutical Sciences Okayama JapanDepartment of Nephrology, Rheumatology, Endocrinology and Metabolism Okayama University Faculty of Medicine, Dentistry and Pharmaceutical Sciences Okayama JapanDepartment of Nephrology, Rheumatology, Endocrinology and Metabolism Okayama University Faculty of Medicine, Dentistry and Pharmaceutical Sciences Okayama JapanDepartment of Nephrology, Rheumatology, Endocrinology and Metabolism Okayama University Faculty of Medicine, Dentistry and Pharmaceutical Sciences Okayama JapanDepartment of Nephrology, Rheumatology, Endocrinology and Metabolism Okayama University Faculty of Medicine, Dentistry and Pharmaceutical Sciences Okayama JapanDepartment of Nephrology, Rheumatology, Endocrinology and Metabolism Okayama University Faculty of Medicine, Dentistry and Pharmaceutical Sciences Okayama JapanDepartment of Nephrology, Rheumatology, Endocrinology and Metabolism Okayama University Faculty of Medicine, Dentistry and Pharmaceutical Sciences Okayama JapanDepartment of Nephrology, Rheumatology, Endocrinology and Metabolism Okayama University Faculty of Medicine, Dentistry and Pharmaceutical Sciences Okayama JapanDepartment of Nephrology, Rheumatology, Endocrinology and Metabolism Okayama University Faculty of Medicine, Dentistry and Pharmaceutical Sciences Okayama JapanDepartment of Pathophysiology Tokyo University of Pharmacy and Life Sciences Tokyo JapanDepartment of Pathophysiology Tokyo University of Pharmacy and Life Sciences Tokyo JapanDepartment of Nephrology, Rheumatology, Endocrinology and Metabolism Okayama University Faculty of Medicine, Dentistry and Pharmaceutical Sciences Okayama JapanKey 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.https://doi.org/10.1002/ccr3.9368IgA nephropathyrenal hypouricemiasteroid pulse therapyurate transporter |
| spellingShingle | 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 A case of renal hypouricemia due to T217M mutation in SLC22A12 incidentally associated with IgA nephropathy Clinical Case Reports IgA nephropathy renal hypouricemia steroid pulse therapy urate transporter |
| title | A case of renal hypouricemia due to T217M mutation in SLC22A12 incidentally associated with IgA nephropathy |
| title_full | A case of renal hypouricemia due to T217M mutation in SLC22A12 incidentally associated with IgA nephropathy |
| title_fullStr | A case of renal hypouricemia due to T217M mutation in SLC22A12 incidentally associated with IgA nephropathy |
| title_full_unstemmed | A case of renal hypouricemia due to T217M mutation in SLC22A12 incidentally associated with IgA nephropathy |
| title_short | A case of renal hypouricemia due to T217M mutation in SLC22A12 incidentally associated with IgA nephropathy |
| title_sort | case of renal hypouricemia due to t217m mutation in slc22a12 incidentally associated with iga nephropathy |
| topic | IgA nephropathy renal hypouricemia steroid pulse therapy urate transporter |
| url | https://doi.org/10.1002/ccr3.9368 |
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