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European Journal of Pediatrics

, Volume 172, Issue 11, pp 1557–1560 | Cite as

Posterior reversible encephalopathy syndrome with exercise-induced acute kidney injury in renal hypouricemia type 1

  • Shuichiro FujinagaEmail author
  • Akira Ito
  • Mayu Nakagawa
  • Tsuneki Watanabe
  • Yoshiyuki Ohtomo
  • Toshiaki Shimizu
Case Report

Abstract

Renal hypouricemia type 1 is caused by mutations in the SLC22A12 gene, whereas type 2 is caused by defects in the SLC2A9 gene. Although both subtypes predispose to exercise-induced acute kidney injury (EIAKI), posterior reversible encephalopathy syndrome (PRES) occurring with this disorder is an uncommon phenomenon that has only been reported to date in a patient with renal hypouricemia type 2. We describe a 13-year-old boy with renal hypouricemia type 1 (serum uric acid, 0.9 mg/dL) with a homozygous W258X mutation in the SLC22A12 gene, presenting with EIAKI and PRES. On admission, his body weight was 61 kg (11 kg above the dry weight), and blood pressure was 153/88 mmHg. Cranial magnetic resonance imaging revealed high-intensity areas in the cortical and subcortical white matter of the occipital lobe. After admission, the patient responded well to a combination of hemodialysis and intravenous nicardipine. This is the first case of concurrent PRES and EIAKI in a patient with renal hypouricemia type 1. We suggest that PRES is not due to severe hypouricemia caused by SLC2A9 mutation but is a manifestation of severe EIAKI associated with renal hypouricemia.

Keywords

Exercise-induced acute kidney injury Posterior reversible encephalopathy syndrome Renal hypouricemia Urate transporter 1 URAT1 

Notes

Acknowledgments

The authors wish to thank Dr Ishimori (Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Hyogo, Japan) for performing sequence analysis of the URAT1 gene in the patient and his family members.

Conflict of interest

The authors declare no conflict of interest.

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Copyright information

© Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  • Shuichiro Fujinaga
    • 1
    Email author
  • Akira Ito
    • 1
  • Mayu Nakagawa
    • 1
  • Tsuneki Watanabe
    • 1
  • Yoshiyuki Ohtomo
    • 2
  • Toshiaki Shimizu
    • 3
  1. 1.Division of NephrologySaitama Children’s Medical CenterSaitama CityJapan
  2. 2.Department of PediatricsJuntendo Nerima HospitalTokyoJapan
  3. 3.Department of PediatricsJuntendo University School of MedicineTokyoJapan

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