Article
Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion.
Journal of the American Society of Nephrology : JASN - 1 Jan 2004
Ichida Kimiyoshi, Hosoyamada Makoto, Hisatome Ichiro, Enomoto Atsushi, Hikita Miho, Endou Hitoshi, Hosoya Tatsuo
Abstract excerpt
Renal hypouricemia is an inherited and heterogeneous disorder characterized by increased urate clearance (CUA). The authors recently established that urate was reabsorbed via URAT1 on the tubular apical membrane and that mutations in SLC22A12 encoding URAT1 cause renal hypouricemia. This study was undertaken to elucidate and correlate clinical and genetic features of renal hypouricemia. The SLC22A12 gene was...
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