Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubular Disorders

Bartter syndrome is a rare inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism with hypokalemic and hypochloremic metabolic alkalosis and low to normal blood pressure. The primary pathogenic mechanism is defective salt reabsorption predominantly in the thick ascending limb of the loop of Henle. There is significant variability in the clinical expression of the disease, which is genetically heterogenous with 5 different genes described to date. Despite considerable phenotypic overlap, correlations of specific clinical characteristics with the underlying molecular defects have been demonstrated, generating gene-specific phenotypes.

Source: Kidney International - January 26, 2021 Category: Urology & Nephrology Authors: Martin Konrad, Tom Nijenhuis, Gema Ariceta, Aurelia Bertholet-Thomas, Lorenzo A. Calo, Giovambattista Capasso, Francesco Emma, Karl P. Schlingmann, Mandeep Singh, Francesco Trepiccione, Stephen B. Walsh, Kirsty Whitton, Rosa Vargas-Poussou, Detlef Bockenh Tags: Executive Summary Source Type: research