In approximately 65% of patients, mutations of chloride voltage-gated channel 5 gene (CLCN5) are responsible for Dent disease type 1 [13, 14], while in 10–15% of patients, mutations in the oculocerebrorenal syndrome of Lowe gene (OCRL) cause Dent disease type 2 [15]. The gene discussed is OCRL; the disease is Dent disease.