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Case Report Open Access

Idiopathic renal hypouricemia: A case report and literature review

  • Authors:
    • Cuiyu Wang
    • Jin Wang
    • Song Liu
    • Xinhua Liang
    • Yifan Song
    • Ling Feng
    • Lanxin Zhong
    • Xiaohua Guo
  • View Affiliations / Copyright

    Affiliations: Department of Nephrology, Shenzhen Hospital, Southern Medical University, Shenzhen, Guangdong 518000, P.R. China, Department of Epidemiology, School of Public Health, Sun Yat‑Sen University, Guangzhou Guangdong 510080, P.R. China, Department of Nephrology, Dalian Liguang Rehabilitation Hospital, Dalian, Liaoning 116000, P.R. China
    Copyright: © Wang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 5118-5124
    |
    Published online on: October 4, 2019
       https://doi.org/10.3892/mmr.2019.10726
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Abstract

Idiopathic renal hypouricemia is a rare hereditary condition. Type 2 renal hyperuricemia (RHUC2) is caused by a mutation in the SLC2A9 gene, which encodes a high‑capacity glucose and urate transporter, glucose transporter (GLUT)9. RHUC2 predisposes to exercise‑induced acute renal failure (EIARF) and nephrolithiasis, which is caused by a defect in renal tubular urate transport and is characterized by increased clearance of renal uric acid. In the present study a case of a 35‑year‑old Chinese man with EIARF is reported. The patient had isolated renal hypouricemia, with a serum uric acid level of 21 µmol/l and a fractional excretion of uric acid of 200%. The mutational analysis revealed a homozygous mutation (c.857G>A in exon 8) in the SLC2A9 gene. The patient's family members carried the same mutation, but were heterozygous and clinically asymptomatic. In conclusion, to the best of our knowledge, this is the first report of a RHUC2 patient with a GLUT9 mutation, p.W286X, which may be a pathogenic mutation of RHUC2. Further investigation into the functional role of GLUT9 in this novel SLC2A9 mutation is required.
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Copy and paste a formatted citation
Spandidos Publications style
Wang C, Wang J, Liu S, Liang X, Song Y, Feng L, Zhong L and Guo X: Idiopathic renal hypouricemia: A case report and literature review. Mol Med Rep 20: 5118-5124, 2019.
APA
Wang, C., Wang, J., Liu, S., Liang, X., Song, Y., Feng, L. ... Guo, X. (2019). Idiopathic renal hypouricemia: A case report and literature review. Molecular Medicine Reports, 20, 5118-5124. https://doi.org/10.3892/mmr.2019.10726
MLA
Wang, C., Wang, J., Liu, S., Liang, X., Song, Y., Feng, L., Zhong, L., Guo, X."Idiopathic renal hypouricemia: A case report and literature review". Molecular Medicine Reports 20.6 (2019): 5118-5124.
Chicago
Wang, C., Wang, J., Liu, S., Liang, X., Song, Y., Feng, L., Zhong, L., Guo, X."Idiopathic renal hypouricemia: A case report and literature review". Molecular Medicine Reports 20, no. 6 (2019): 5118-5124. https://doi.org/10.3892/mmr.2019.10726
Copy and paste a formatted citation
x
Spandidos Publications style
Wang C, Wang J, Liu S, Liang X, Song Y, Feng L, Zhong L and Guo X: Idiopathic renal hypouricemia: A case report and literature review. Mol Med Rep 20: 5118-5124, 2019.
APA
Wang, C., Wang, J., Liu, S., Liang, X., Song, Y., Feng, L. ... Guo, X. (2019). Idiopathic renal hypouricemia: A case report and literature review. Molecular Medicine Reports, 20, 5118-5124. https://doi.org/10.3892/mmr.2019.10726
MLA
Wang, C., Wang, J., Liu, S., Liang, X., Song, Y., Feng, L., Zhong, L., Guo, X."Idiopathic renal hypouricemia: A case report and literature review". Molecular Medicine Reports 20.6 (2019): 5118-5124.
Chicago
Wang, C., Wang, J., Liu, S., Liang, X., Song, Y., Feng, L., Zhong, L., Guo, X."Idiopathic renal hypouricemia: A case report and literature review". Molecular Medicine Reports 20, no. 6 (2019): 5118-5124. https://doi.org/10.3892/mmr.2019.10726
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