Recurrent exercise-induced acute kidney injury by idiopathic renal hypouricemia with a novel mutation in the SLC2A9 gene and literature review

@inproceedings{Shen2014RecurrentEA,
  title={Recurrent exercise-induced acute kidney injury by idiopathic renal hypouricemia with a novel mutation in the SLC2A9 gene and literature review},
  author={Huijun Shen and Chunyue Feng and Xia Jin and Jianhua Mao and Haidong Fu and Wei-zhong Gu and Ai’min Liu and Qiang Shu and Li-zhong Du},
  booktitle={BMC Pediatrics},
  year={2014}
}
BackgroundIdiopathic 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 presentationHerein, we report the case of a girl with severe iRHUC (serum urate 0.05 mg/dL, fractional excretion of uric acid 295.99%) associated with… CONTINUE READING
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