Even if the phenotypic heterogeneity observed in Dent disease patients can be attributed to a proximal tubular defect [13], DD2 subjects also present with extra-renal signs such as milder cognitive, behavioral impairments, a mild increase in lactate dehydrogenase (LDH) and/or creatine kinase (CK) levels, presumably reflecting the expression of OCRL in the brain and skeletal muscle. Here, OCRL is linked to Dent disease.