Familial hyperaldosteronism: an European Reference Network on Rare Endocrine Conditions clinical practice guideline.
Paolo MulateroUte I SchollCarlos E FardellaEvangelia CharmandariAndrzej JanuszewiczMartin ReinckeCelso E Gomez-SanchezMichael StowasserOlaf M DekkersPublished in: European journal of endocrinology (2024)
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.
Keyphrases
- end stage renal disease
- early onset
- clinical practice
- newly diagnosed
- ejection fraction
- systematic review
- chronic kidney disease
- emergency department
- intensive care unit
- peritoneal dialysis
- prognostic factors
- high throughput
- cardiac surgery
- patient reported outcomes
- acute kidney injury
- patient reported
- replacement therapy
- network analysis