Article
Novel URAT1 mutations caused acute renal failure after exercise in two Chinese families with renal hypouricemia.
Gene - 1 Jan 2013
Li Zongzhe, Ding Hu, Chen Chen, Chen Yan, Wang Dao Wen, Lv Yongman
Abstract excerpt
Renal hypouricemia (RHUC), as an infrequent hereditary disease, is associated with severe complications such as exercise-induced acute renal failure (EIARF). Loss-of-function mutations in urate transporter gene URAT1 (Type 1) and in glucose transporter gene GLUT9 (Type 2) are major causes of this disorder. In this study, URAT1 and GLUT9 were screened in two uncorrelated families from mainland China and a total of...
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