The Site and Type of CLCN5 Genetic Variation Impact the Resulting Dent Disease-1 Phenotype

Abstract excerpt

Introduction Dent disease is an X-linked recessive disorder associated with low molecular weight proteinuria (LMWP), nephrocalcinosis, kidney stones, and kidney failure in the third to fifth decade of life. It consists of Dent disease 1 (DD1) (60% of patients) because of pathogenic variants in the CLCN5 gene and Dent disease 2 (DD2) with changes in OCRL . Methods Retrospective review of 162 patients from 121...

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