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

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.

• Authors: Shuichiro Fujinaga, Akira Ito, Mayu Nakagawa, Tsuneki Watanabe, Yoshiyuki Ohtomo, Toshiaki Shimizu
• Journal: European journal of pediatrics (Eur J Pediatr) Vol. 172 Issue 11 Pg. 1557-60 (Nov 2013) ISSN: 1432-1076 [Electronic] Germany
• PMID: 23525542 (Publication Type: Case Reports, Journal Article)

Chemical References

• Genetic Markers
• Organic Anion Transporters
• Organic Cation Transport Proteins
• SLC22A12 protein, human

Topics

• Acute Kidney Injury (diagnosis, etiology)
• Adolescent
• Exercise
• Genetic Markers
• Homozygote
• Humans
• Male
• Mutation
• Organic Anion Transporters (genetics)
• Organic Cation Transport Proteins (genetics)
• Posterior Leukoencephalopathy Syndrome (complications, diagnosis, genetics)
• Renal Tubular Transport, Inborn Errors (complications, diagnosis, genetics)
• Urinary Calculi (complications, diagnosis, genetics)