Familial hyperaldosteronism: an European Reference Network on Rare Endocrine Conditions clinical practice guideline

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dc.contributor.authorMulatero, Paolo
dc.contributor.authorScholl, Ute, I
dc.contributor.authorFardella, Carlos E.
dc.contributor.authorCharmandari, Evangelia
dc.contributor.authorJanuszewicz, Andrzej
dc.contributor.authorReincke, Martin
dc.contributor.authorGomez-Sanchez, Celso E.
dc.contributor.authorStowasser, Michael
dc.contributor.authorDekkers, Olaf M.
dc.date.accessioned2025-01-20T17:05:39Z
dc.date.available2025-01-20T17:05:39Z
dc.date.issued2024
dc.description.abstractWe 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.
dc.description.funderEuropean Union
dc.fuente.origenWOS
dc.identifier.doi10.1093/ejendo/lvae041
dc.identifier.eissn1479-683X
dc.identifier.issn0804-4643
dc.identifier.urihttps://doi.org/10.1093/ejendo/lvae041
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/90738
dc.identifier.wosidWOS:001202601300002
dc.issue.numero4
dc.language.isoen
dc.pagina.finalG14
dc.pagina.inicioG1
dc.revistaEuropean journal of endocrinology
dc.rightsacceso restringido
dc.subjectadrenal cortex
dc.subjectdiagnosis of endocrine disease
dc.subjectgenetics in endocrinology
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleFamilial hyperaldosteronism: an European Reference Network on Rare Endocrine Conditions clinical practice guideline
dc.typeartículo
dc.volumen190
sipa.indexWOS
sipa.trazabilidadWOS;2025-01-12
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