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dc.contributorVall d'Hebron Barcelona Hospital Campus
dc.contributor.authorKonrad, Martin
dc.contributor.authorNijenhuis, Tom
dc.contributor.authorAriceta Iraola, Gema
dc.contributor.authorBertholet-Thomas, Aurelia
dc.contributor.authorCalo, Lorenzo A.
dc.contributor.authorCapasso, Giovambattista
dc.date.accessioned2021-07-09T12:29:05Z
dc.date.available2021-07-09T12:29:05Z
dc.date.issued2021-02
dc.identifier.citationKonrad M, Nijenhuis T, Ariceta G, Bertholet-Thomas A, Calo LA, Capasso G, et al. 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 Int. 2021 Feb;99(2):324–335.
dc.identifier.issn1523-1755
dc.identifier.urihttp://hdl.handle.net/11351/6145
dc.descriptionBartter syndrome; Inherited hypokalemia; Salt-losing tubulopathy
dc.description.abstractBartter 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.
dc.language.isoeng
dc.publisherElsevier
dc.relation.ispartofseriesKidney International;99(2)
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.sourceScientia
dc.subjectAssistència sanitària - Control de qualitat
dc.subjectRonyons - Malalties - Diagnòstic
dc.subjectMalalties rares
dc.subject.meshBartter Syndrome
dc.subject.mesh/genetics
dc.subject.meshQuality Indicators, Health Care
dc.subject.meshDiagnostic Techniques and Procedures
dc.titleDiagnosis 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
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.1016/j.kint.2020.10.035
dc.subject.decssíndrome de Bartter
dc.subject.decs/genética
dc.subject.decsindicadores de calidad en la asistencia sanitaria
dc.subject.decstécnicas y procedimientos diagnósticos
dc.relation.publishversionhttps://linkinghub.elsevier.com/retrieve/pii/S0085253820314046
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dc.audienceProfessionals
dc.contributor.organismesInstitut Català de la Salut
dc.contributor.authoraffiliation[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
dc.identifier.pmid33509356
dc.identifier.wos000661641000001
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess


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