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

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Clinical Guidelines
Authored By
Mulatero P, Scholl UI, Fardella CE, Charmandari E, Januszewicz A, Reincke M, Gomez-Sanchez CE, Stowasser M, Dekkers OM
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Interests
Endocrinology
Internal/Family Medicine
Speciality
Endocrinology
Internal/Family Medicine
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volume
190
ISSN
1479-683X
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ISSN
1479-683X ; Electronic
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true
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["Mulatero P, Scholl UI, Fardella CE, Charmandari E, Januszewicz A, Reincke M, Gomez-Sanchez CE, Stowasser M, Dekkers OM","Publisher: Oxford University Press Country of Publication: England NLM ID: 9423848 Publication Model: Print Cited Medium: Internet ISSN: 1479-683X (Electronic) Linking ISSN: 08044643 NLM ISO Abbreviation: Eur J Endocrinol","Journal Article; Practice Guideline","2024-03-30","European journal of endocrinology [Eur J Endocrinol] 2024 Mar 30; Vol. 190 (4), pp. G1-G14.","English","1479-683X","Hyperaldosteronism*\/diagnosis , Hyperaldosteronism*\/genetics , Hyperaldosteronism*\/therapy, Humans ; Europe ; Rare Diseases\/diagnosis ; Rare Diseases\/genetics ; Rare Diseases\/therapy","Humans, Europe, Rare Diseases diagnosis, Rare Diseases genetics, Rare Diseases therapy, Hyperaldosteronism diagnosis, Hyperaldosteronism genetics, Hyperaldosteronism therapy","European journal of endocrinology","190"]
Description
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.<br /> (© The Author(s) 2024. Published by Oxford University Press on behalf of European Society of Endocrinology.)
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