Genetic analysis of transporters and channels related to urolithiasis or hydronephrosis

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In this project, we performed the following three investigations related to urolithiasis.(1) Genetic analysis of ECaC1 (epithelial calcium channnel 1) gene in patients with idiopathic hypercalciuria(2) Genetic analysis of hURAT1 (human uirnc acid transporter 1) gene in patients with hereditary hypouricemia(3) Genecitc analysis of CLCN5 (chloride channel 5) in patients with Dent's disease.During 2 years of investigation, we could obtain the following results :(1) We could not detect any mutations in ECaC1 gene in patiesnts with idiopathic hypercalciuria who developed urolithiasis during infancy.(2) We performed genecic analyzes in 7 unrelated Japanese families with renal hypouricemia. We identified hURAT1 mutations in 6 families ; in five families, W258X mutation was detected. This result indicates that W258X mutation is the predominant genetic cause in Japanese patients with renal hypouricemia.(3) We performed CLCN5 gene analysis in more than 15 families with Dent's disease, and identified several mutations.Now, we continue to perform genetic analysis of CLCN5 and hURAT1. The present results added certain knowledge on the genetic backgrounds of urolithiasis.