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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.

DOI:10.1002/ccr3.9368
PMID:39206069
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11349819/
Abstract

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.

摘要

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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1c5e/11349819/6c3fed14769b/CCR3-12-e9368-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1c5e/11349819/6c3fed14769b/CCR3-12-e9368-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1c5e/11349819/6c3fed14769b/CCR3-12-e9368-g001.jpg

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本文引用的文献

1
Global Incidence of IgA Nephropathy by Race and Ethnicity: A Systematic Review.按种族和民族划分的 IgA 肾病全球发病率：系统评价。
Kidney360. 2023 Aug 1;4(8):1112-1122. doi: 10.34067/KID.0000000000000165. Epub 2023 May 25.
2
Pathogenic Variants of (URAT1) and (GLUT9) in Spanish Patients with Renal Hypouricemia: Founder Effect of Variant c.374C>T; p.(T125M).西班牙肾性低尿酸血症患者的 (URAT1) 和 (GLUT9) 致病变体：变体 c.374C>T; p.(T125M) 的创始效应。
Int J Mol Sci. 2023 May 8;24(9):8455. doi: 10.3390/ijms24098455.
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Clinical features suggesting renal hypouricemia as the cause of acute kidney injury: a case report and review of the literature.
临床特征提示肾尿酸减少症是急性肾损伤的病因：病例报告及文献复习。
J Nephrol. 2023 Apr;36(3):651-657. doi: 10.1007/s40620-022-01494-8. Epub 2022 Nov 23.
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Xanthine Oxidoreductase Inhibitors Suppress the Onset of Exercise-Induced AKI in High HPRT Activity - Double Knockout Mice.黄嘌呤氧化酶抑制剂可抑制高 HPRT 活性 - 双重敲除小鼠运动诱导的 AKI 的发生。
J Am Soc Nephrol. 2022 Feb;33(2):326-341. doi: 10.1681/ASN.2021050616. Epub 2021 Nov 19.
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Associations between serum uric acid levels and the incidence of nonfatal stroke: a nationwide community-based cohort study.血清尿酸水平与非致死性中风发病率之间的关联：一项基于全国社区的队列研究。
Clin Exp Nephrol. 2017 Jun;21(3):497-503. doi: 10.1007/s10157-016-1311-7. Epub 2016 Jul 12.
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A multicenter randomized controlled trial of tonsillectomy combined with steroid pulse therapy in patients with immunoglobulin A nephropathy.一项关于扁桃体切除术联合类固醇脉冲疗法治疗免疫球蛋白A肾病患者的多中心随机对照试验。
Nephrol Dial Transplant. 2014 Aug;29(8):1546-53. doi: 10.1093/ndt/gfu020. Epub 2014 Mar 3.
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The paradoxical relationship between serum uric acid and cardiovascular disease.血清尿酸与心血管疾病之间的矛盾关系。
Clin Chim Acta. 2008 Jun;392(1-2):1-7. doi: 10.1016/j.cca.2008.02.024. Epub 2008 Mar 7.
8
Steroid pulse therapy impaired endothelial function while increasing plasma high molecule adiponectin concentration in patients with IgA nephropathy.
Nephrol Dial Transplant. 2006 Dec;21(12):3475-80. doi: 10.1093/ndt/gfl423. Epub 2006 Sep 2.
9
Efficacy of tonsillectomy pulse therapy versus multiple-drug therapy for IgA nephropathy.扁桃体切除脉冲疗法与多药疗法治疗IgA肾病的疗效比较
Pediatr Nephrol. 2006 Nov;21(11):1701-6. doi: 10.1007/s00467-006-0272-6. Epub 2006 Aug 24.
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Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion.日本肾性低尿酸血症患者的临床及分子分析——URAT1基因对尿尿酸排泄的影响
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