A case of renal hypouricemia and a G774A gene mutation causing acute renal injury that was improved by hemodialysis

Shuma Hirashio; Kyoko Yamada; Takayuki Naito; Takao Masaki

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A case of renal hypouricemia and a G774A gene mutation causing acute renal injury that was improved by hemodialysis

机译：血液透析改善了肾低尿酸血症和引起急性肾损伤的G774A基因突变

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A 16-year-old man came to our hospital complaining of loin pain after a middle-distance race. Following admission, his renal dysfunction worsened rapidly, requiring several hemodialysis sessions. A renal biopsy showed no change in the glomeruli, although interstitial edema was observed. Following the recovery of renal function, we confirmed that his uric acid level was abnormally low and urate clearance was abnormality high. Gene analysis showed that he had a G774A mutation which dominated the SLC22A12 gene encoding the urate transporter 1.

机译：一名16岁男子在中距离比赛后抱怨腰痛来到我们医院。入院后，他的肾功能不全迅速恶化，需要进行几次血液透析。肾活检显示肾小球无变化，尽管观察到间质水肿。肾功能恢复后，我们证实他的尿酸水平异常低，而尿酸盐清除异常高。基因分析显示他有一个G774A突变，该突变主导了编码尿酸盐转运蛋白1的SLC22A12基因。

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《CEN Case Reports》 |2012年第1期|p.24-28|共5页
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Shuma Hirashio; Kyoko Yamada; Takayuki Naito; Takao Masaki;
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1. A case of exercise-induced acute renal failure with G774A mutation in SCL22A12 causing renal hypouricemia. [J] . Kim YH, Cho JT Journal of Korean medical science . 2011,第9期

机译：一例运动诱发的急性肾功能衰竭，其SCL22A12中的G774A突变引起肾性低尿酸血症。
2. A Case of Exercise-induced Acute Renal Failure with G774A Mutation in SCL22A12 Causing Renal Hypouricemia [J] . Kim Yong Hyun, Cho Jong Tae Journal of Korean medical science. . 2011,第9期

机译：运动性急性肾功能衰竭伴S7742突变的SCL22A12引起肾性低尿酸血症一例
3. Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese. [J] . Ichida K, Hosoyamada M, Kamatani N, Clinical Genetics: An International Journal of Genetics in Medicine . 2008,第3期

机译：SLC22A12中引起日本人低尿酸血症的G774A突变的年龄和起源。
4. High circulating level of fibroblast growth factor-23 promotes renal excretion of phosphate in hemodialysis patients with residual renal function [C] . Wang Mengjing, You Li, Li Haiming, International Congress on Nutrition and Metabolism in Renal Disease . 2012

机译：成纤维细胞生长因子-33的高循环水平促进血液透析患者残留肾功能的磷酸盐肾脏排泄
5. Evaluation of Renal Injury and Maternal Health in Rodents with a History of HELLP Syndrome with and without Acute Kidney Injury [D] . Szczepanski, Jamie L. 2020

机译：啮齿动物肾伤和孕产妇健康评估，患有急性肾损伤的Hellp综合征史
6. A case of renal hypouricemia and a G774A gene mutation causing acute renal injury that was improved by hemodialysis [O] . Shuma Hirashio, Kyoko Yamada, Takayuki Naito, 2012

机译：一例肾低尿酸血症和引起急性肾损伤的G774A基因突变通过血液透析得到改善
7. A Case of Exercise-induced Acute Renal Failure with G774A Mutation in SCL22A12 Causing Renal Hypouricemia [O] . Kim, Yong Hyun, Cho, Jong Tae 2011

机译：运动引起的急性肾功能衰竭伴S7742突变的SCL22A12引起肾性低尿酸血症。

A case of renal hypouricemia and a G774A gene mutation causing acute renal injury that was improved by hemodialysis

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