TY  - JOUR
TI  - 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
EP  - 335
AV  - public
VL  - 99
Y1  - 2021/02//
SP  - 324
N1  - 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/).
IS  - 2
ID  - discovery10121322
N2  - 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.
UR  - https://doi.org/10.1016/j.kint.2020.10.035
JF  - Kidney International
KW  - Bartter syndrome
KW  -  hypokalemic metabolic alkalosis
KW  -  inherited hypokalemia
KW  -  salt-losing tubulopathy
A1  - Konrad, M
A1  - Nijenhuis, T
A1  - Ariceta, G
A1  - Bertholet-Thomas, A
A1  - Calo, LA
A1  - Capasso, G
A1  - Emma, F
A1  - Schlingmann, KP
A1  - Singh, M
A1  - Trepiccione, F
A1  - Walsh, SB
A1  - Whitton, K
A1  - Vargas-Poussou, R
A1  - Bockenhauer, D
ER  -