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Non-urate transporter 1-related renal hypouricemia and acute renal failure in an Israeli-Arab family.
- Source :
-
Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2009 May; Vol. 24 (5), pp. 999-1003. Date of Electronic Publication: 2009 Feb 03. - Publication Year :
- 2009
-
Abstract
- Idiopathic renal hypouricemia (IRHU) is a rare hereditary disease, predisposing the individual to exercise-induced acute renal failure (EIARF) and nephrolithiasis, and it is characterized by increased clearance of renal uric acid. Most of the described patients are Japanese, who have loss-of-function mutations in the SLC22A12 gene coding for the human urate transporter 1 (URAT1) gene. An 18-year-old youth, who was admitted for EIARF due to IRHU, and six consanguineous Israeli-Arab family members were included in the study. The family members were tested for fractional excretion of uric acid and molecular analysis of the URAT1 gene. Four family members, including the proband, had very low levels of blood uric acid and high rate of fractional excretion (FE urate> 100%) of uric acid. Genetic analysis of the affected family members did not reveal a mutation in the coding regions and intron-exon boundaries of SCL22A12. Haplotype analysis excluded SCL22A12 involvement in the pathogenesis, suggesting a different gene as a cause of the disease. We herein describe the first Israeli-Arab family with IRHU. A non-URAT1 genetic defect that causes decreased reabsorption or, more probably, increased secretion of uric acid, induces IRHU. Further studies are required in order to elucidate the genetic defect.
- Subjects :
- Acute Kidney Injury urine
Adolescent
Arabs ethnology
Arabs genetics
Consanguinity
DNA Mutational Analysis
Female
Humans
Israel epidemiology
Mutation
Organic Anion Transporters urine
Organic Cation Transport Proteins urine
Pedigree
Acute Kidney Injury genetics
Family Health ethnology
Organic Anion Transporters genetics
Organic Cation Transport Proteins genetics
Uric Acid urine
Subjects
Details
- Language :
- English
- ISSN :
- 1432-198X
- Volume :
- 24
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Pediatric nephrology (Berlin, Germany)
- Publication Type :
- Academic Journal
- Accession number :
- 19189137
- Full Text :
- https://doi.org/10.1007/s00467-008-1093-6