Article
Recurrent exercise-induced acute kidney injury by idiopathic renal hypouricemia with a novel mutation in the SLC2A9 gene and literature review.
BMC pediatrics - 14 Mar 2014
Shen Huijun, Feng Chunyue, Jin Xia, Mao Jianhua, Fu Haidong, Gu Weizhong, Liu Ai'min, Shu Qiang, Du Lizhong
Abstract excerpt
BACKGROUND: Idiopathic renal hypouricemia (iRHUC) is an autosomal recessive hereditary disorder, characterized by impaired tubular uric acid transport, re-absorption insufficiency and/or the acceleration of secretions. Some patients present with severe complications, such as exercise-induced acute kidney injury (EIAKI) and nephrolithiasis. CASE PRESENTATION: Herein, we report the case of a girl with severe iRHUC...
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