eprintid: 10121322 rev_number: 15 eprint_status: archive userid: 608 dir: disk0/10/12/13/22 datestamp: 2021-02-11 11:55:21 lastmod: 2024-11-01 10:04:24 status_changed: 2021-02-11 11:55:21 type: article metadata_visibility: show creators_name: Konrad, M creators_name: Nijenhuis, T creators_name: Ariceta, G creators_name: Bertholet-Thomas, A creators_name: Calo, LA creators_name: Capasso, G creators_name: Emma, F creators_name: Schlingmann, KP creators_name: Singh, M creators_name: Trepiccione, F creators_name: Walsh, SB creators_name: Whitton, K creators_name: Vargas-Poussou, R creators_name: Bockenhauer, D title: 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 ispublished: pub subjects: GOSH divisions: UCL divisions: B02 divisions: C10 divisions: D17 divisions: G93 keywords: Bartter syndrome, hypokalemic metabolic alkalosis, inherited hypokalemia, salt-losing tubulopathy note: Copyright © 2020, International Society of Nephrology. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). abstract: 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. As with many other rare disease conditions, there is a paucity of clinical studies that could guide diagnosis and therapeutic interventions. In this expert consensus document, the authors have summarized the currently available knowledge and propose clinical indicators to assess and improve quality of care. date: 2021-02 date_type: published official_url: https://doi.org/10.1016/j.kint.2020.10.035 oa_status: green full_text_type: pub language: eng primo: open primo_central: open_green verified: verified_manual elements_id: 1845637 doi: 10.1016/j.kint.2020.10.035 pii: S0085-2538(20)31404-6 lyricists_name: Bockenhauer, Detlef lyricists_name: Walsh, Stephen lyricists_id: DBOCK32 lyricists_id: SBWAL99 actors_name: Kalinowski, Damian actors_id: DKALI47 actors_role: owner full_text_status: public publication: Kidney International volume: 99 number: 2 pagerange: 324-335 event_location: United States citation: Konrad, M; Nijenhuis, T; Ariceta, G; Bertholet-Thomas, A; Calo, LA; Capasso, G; Emma, F; ... Bockenhauer, D; + view all <#> Konrad, M; Nijenhuis, T; Ariceta, G; Bertholet-Thomas, A; Calo, LA; Capasso, G; Emma, F; Schlingmann, KP; Singh, M; Trepiccione, F; Walsh, SB; Whitton, K; Vargas-Poussou, R; Bockenhauer, D; - view fewer <#> (2021) 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. Kidney International , 99 (2) pp. 324-335. 10.1016/j.kint.2020.10.035 <https://doi.org/10.1016/j.kint.2020.10.035>. Green open access document_url: https://discovery.ucl.ac.uk/id/eprint/10121322/1/Walsh_Diagnosis%20and%20management%20of%20Bartter%20syndrome_VoR.pdf