Article
Dent-2 disease with a Bartter-like phenotype caused by the Asp631Glu mutation in the OCRL gene.
BMC nephrology - 12 May 2022
Drosataki Eleni, Maragkou Sevasti, Dermitzaki Kleio, Stavrakaki Ioanna, Lygerou Dimitra, Latsoudis Helen, Pleros Christos, Petrakis Ioannis, Zaganas Ioannis, Stylianou Kostas
Abstract excerpt
BACKGROUND: Dent disease is an X-linked disorder characterized by low molecular weight proteinuria (LMWP), hypercalciuria, nephrolithiasis and chronic kidney disease (CKD). It is caused by mutations in the chloride voltage-gated channel 5 (CLCN5) gene (Dent disease-1), or in the OCRL gene (Dent disease-2). It is associated with chronic metabolic acidosis; however metabolic alkalosis has rarely been reported. CASE...
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