@entity8 ( @entity8 ) is a rare @entity74 , predisposing the individual to exercise-induced @entity810 (EIARF) and @entity1790 , and it is characterized by increased clearance of renal @entity414 . Most of the described @entity1 are Japanese, who have loss-of-function mutations in the @entity24459 gene coding for the @entity1 @entity24459 ( @entity24459 ) gene. An 18-year-old youth, who was admitted for EIARF due to @entity8 , and six consanguineous Israeli-Arab family members were included in the study. The family members were tested for fractional excretion of @entity414 and molecular analysis of the @entity24459 gene. Four family members, including the proband, had very low levels of blood @entity414 and high rate of fractional excretion (FE urate> 100%) of @entity414 . 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 @entity8 . A non- @entity24459 @entity74 that causes decreased reabsorption or, more probably, increased secretion of @entity414 , induces @entity8 . Further studies are required in order to elucidate the @entity74 .

Non- XXXX -related @entity8 and @entity810 in an Israeli-Arab family.

@entity1 :: ('9606', 'Species') :: ['human', 'patients'] @entity8 :: ('MESH:D007674', 'Disease') :: ['Idiopathic renal hypouricemia', 'IRHU'] @entity24459 :: ('116085', 'Gene') :: ['urate transporter 1', 'URAT1', 'SLC22A12'] @entity1790 :: ('MESH:D053040', 'Disease') :: ['nephrolithiasis'] @entity74 :: ('MESH:D030342', 'Disease') :: ['genetic defect', 'hereditary disease'] @entity810 :: ('MESH:D058186', 'Disease') :: ['acute renal failure'] @entity414 :: ('MESH:D014527', 'Chemical') :: ['uric acid']
@entity24459 :: (116085,Gene) :: ['urate transporter 1']
