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Familial hyperaldosteronism: an European Reference Network on Rare Endocrine Conditions clinical practice guideline.
Mulatero, Paolo; Scholl, Ute I; Fardella, Carlos E; Charmandari, Evangelia; Januszewicz, Andrzej; Reincke, Martin; Gomez-Sanchez, Celso E; Stowasser, Michael; Dekkers, Olaf M.
Afiliación
  • Mulatero P; Division of Internal Medicine and Hypertension Unit, Department of Medical Sciences, University of Torino, 10126 Torino, Italy.
  • Scholl UI; Center of Functional Genomics, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, 10115 Berlin, Germany.
  • Fardella CE; Department of Endocrinology, School of Medicine, Centro Traslacional de Endocrinología Universidad Católica (CETREN-UC), Pontificia Universidad Católica de Chile, 8330033 Santiago, Chile.
  • Charmandari E; Division of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, Athens 11527, Greece.
  • Januszewicz A; Division of Endocrinology and Metabolism, Center for Clinical, Experimental Surgery and Translational Research, Biomedical Research Foundation of the Academy of Athens, Athens 11527, Greece.
  • Reincke M; Department of Hypertension, National Institute of Cardiology, 02-628 Warsaw, Poland.
  • Gomez-Sanchez CE; Department of Medicine 4, LMU University Hospital, LMU Munich, Munich D-80336, Germany.
  • Stowasser M; Research Service, G. V. (Sonny) Montgomery VA Medical Center, Jackson, MS 39216, United States.
  • Dekkers OM; Department of Pharmacology and Toxicology, University of Mississippi Medical Center, Jackson, 39216 MS, United States.
Eur J Endocrinol ; 190(4): G1-G14, 2024 Mar 30.
Article en En | MEDLINE | ID: mdl-38571460
ABSTRACT
We describe herein the European Reference Network on Rare Endocrine Conditions clinical practice guideline on diagnosis and management of familial forms of hyperaldosteronism. The guideline panel consisted of 10 experts in primary aldosteronism, endocrine hypertension, paediatric endocrinology, and cardiology as well as a methodologist. A systematic literature search was conducted, and because of the rarity of the condition, most recommendations were based on expert opinion and small patient series. The guideline includes a brief description of the genetics and molecular pathophysiology associated with each condition, the patients to be screened, and how to screen. Diagnostic and treatment approaches for patients with genetically determined diagnosis are presented. The recommendations apply to patients with genetically proven familial hyperaldosteronism and not to families with more than one case of primary aldosteronism without demonstration of a responsible pathogenic variant.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Hiperaldosteronismo Límite: Humans País/Región como asunto: Europa Idioma: En Revista: Eur J Endocrinol Asunto de la revista: ENDOCRINOLOGIA Año: 2024 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Hiperaldosteronismo Límite: Humans País/Región como asunto: Europa Idioma: En Revista: Eur J Endocrinol Asunto de la revista: ENDOCRINOLOGIA Año: 2024 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Reino Unido