1. 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
- Author
-
Aurélia Bertholet-Thomas, Giovambattista Capasso, Martin Konrad, Detlef Bockenhauer, Lorenzo A. Calò, Francesco Trepiccione, Mandeep Singh, Gema Ariceta, Kirsty Whitton, Karl P. Schlingmann, Rosa Vargas-Poussou, Francesco Emma, Stephen B. Walsh, Tom Nijenhuis, Konrad, M., Nijenhuis, T., Ariceta, G., Bertholet-Thomas, A., Calo, L. A., Capasso, G., Emma, F., Schlingmann, K. P., Singh, M., Trepiccione, F., Walsh, S. B., Whitton, K., Vargas-Poussou, R., Bockenhauer, D., Institut Català de la Salut, [Konrad M] Department of General Pediatrics, University Hospital Münster, Münster, Germany. [Nijenhuis T] Department of Nephrology, Radboud University Medical Center, Nijmegen, The Netherlands. [Ariceta G] Servei de Nefrologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Bertholet-Thomas A] Université Claude Bernard Lyon 1, Lyon, France. [Calo LA] Department of Medicine (DIMED), Nephrology, Dialysis, Transplantation, University of Padova, Padua, Italy. [Capasso G] Division of Nephrology, Department of Translational Medical Sciences, School of Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy, and Vall d'Hebron Barcelona Hospital Campus
- Subjects
0301 basic medicine ,030232 urology & nephrology ,Disease ,Endocrine System Diseases::Adrenal Gland Diseases::Adrenocortical Hyperfunction::Hyperaldosteronism::Bartter Syndrome [DISEASES] ,hypokalemic metabolic alkalosi ,Bioinformatics ,Bartter syndrome ,urologic and male genital diseases ,03 medical and health sciences ,0302 clinical medicine ,Renal tubular dysfunction ,Ronyons - Malalties - Diagnòstic ,medicine ,Other subheadings::Other subheadings::/genetics [Other subheadings] ,salt-losing tubulopathy ,inherited hypokalemia ,Secondary hyperaldosteronism ,business.industry ,Mechanism (biology) ,Otros calificadores::Otros calificadores::/genética [Otros calificadores] ,medicine.disease ,030104 developmental biology ,Blood pressure ,Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11] ,Assistència sanitària - Control de qualitat ,administración de los servicios de salud::calidad de la atención sanitaria::indicadores de calidad en la asistencia sanitaria [ATENCIÓN DE SALUD] ,Nephrology ,Health Services Administration::Quality of Health Care::Quality Indicators, Health Care [HEALTH CARE] ,Malalties rares ,Diagnosis::Diagnostic Techniques and Procedures [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT] ,enfermedades del sistema endocrino::enfermedades de las glándulas suprarrenales::hiperfunción corticosuprarrenal::hiperaldosteronismo::síndrome de Bartter [ENFERMEDADES] ,business ,diagnóstico::técnicas y procedimientos diagnósticos [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS] ,Kidney disease ,Rare disease - Abstract
Síndrome de Bartter; Hipokalièmia heretada; Tubulopatia perdedora de sal Síndrome de Bartter; Hipopotasemia hereditaria; Tubulopatía perdedora de sal Bartter syndrome; Inherited hypokalemia; Salt-losing tubulopathy 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.
- Published
- 2021