一例因SLC22A12基因T217M突变导致的肾性低尿酸血症，偶然合并IgA肾病。
A case of renal hypouricemia due to T217M mutation in SLC22A12 incidentally associated with IgA nephropathy.
作者信息
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
机构信息
Department of Nephrology, Rheumatology, Endocrinology and Metabolism Okayama University Faculty of Medicine, Dentistry and Pharmaceutical Sciences Okayama Japan.
Department of Chronic Kidney Disease and Cardiovascular Disease Okayama University Faculty of Medicine, Dentistry and Pharmaceutical Sciences Okayama Japan.
出版信息
Clin Case Rep. 2024 Aug 27;12(9):e9368. doi: 10.1002/ccr3.9368. eCollection 2024 Sep.
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.
SLC22A12基因中的T217M杂合突变导致肾性低尿酸血症；该IgA肾病患者肾活检除IgA肾病外无其他异常发现。低尿酸血症易受氧化应激影响，但低尿酸血症患者的IgA肾病可用类固醇冲击疗法治疗且无不良事件发生。
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