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

Abstract

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 (serum urate 0.05 mg/dL, fractional excretion of uric acid 295.99%) associated with recurrent EIAKI, in whom the disease was caused by a homozygous mutation (g.68G > A in exon 3) in the SLC2A9 gene. Her family members (father, mother and brother) carried the same mutation but were heterozygous, without any signs of severe hypouricemia.

CONCLUSIONS:

Our findings indicate that iRHUC is a rare disorder but that it should also be considered in patients with EIAKI, especially in those patients who manifest with moderately elevated or normal serum concentrations of uric acid during the acute phase of AKI. Mutational screening of the SLC2A9 gene is necessary for the diagnosis of iRHUC, and homozygous mutations of the SLC2A9 alleles can cause severe hypouricemia. Careful attention should be paid to any signs of hypouricemia during the recovery phase of AKI and long-term follow-up.

• Authors: Huijun Shen, Chunyue Feng, Xia Jin, Jianhua Mao, Haidong Fu, Weizhong Gu, Ai'min Liu, Qiang Shu, Lizhong Du
• Journal: BMC pediatrics (BMC Pediatr) Vol. 14 Pg. 73 (Mar 14 2014) ISSN: 1471-2431 [Electronic] England
• PMID: 24628802 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Review)

Chemical References

• Glucose Transport Proteins, Facilitative
• SLC2A9 protein, human

Topics

• Acute Kidney Injury (etiology, genetics)
• Child
• Exercise
• Female
• Glucose Transport Proteins, Facilitative (genetics)
• Humans
• Mutation
• Pedigree
• Recurrence
• Renal Tubular Transport, Inborn Errors (complications)
• Urinary Calculi (complications)