Dent-2 disease with a Bartter-like phenotype caused by the Asp631Glu mutation in the OCRL gene.
Eleni DrosatakiSevasti MaragkouKleio DermitzakiIoanna StavrakakiDimitra LygerouHelen LatsoudisChristos PlerosIoannis PetrakisIoannis ZaganasKonstantinos StylianouPublished in: BMC nephrology (2022)
We present the clinical characteristics of the Asp631Glu mutation in the OCRL gene, presenting as Dent-2 disease with Bartter-like features. Phosphorous repletion resulted in significant improvement of all clinical features except for progressive CKD. Angiotensin blockade improved proteinuria and stabilized kidney function for several years.