Overview of aldosterone-related genetic syndromes and recent advances - Archive ouverte HAL Access content directly
Journal Articles Current Opinion in Endocrinology, Diabetes and Obesity Year : 2018

Overview of aldosterone-related genetic syndromes and recent advances

(1, 2) , (1, 2) , (1)
1
2

Abstract

Purpose of review: Primary aldosteronism is the most common form of secondary hypertension. Early diagnosis and treatment are key to cure of hypertension and prevention of cardiovascular complications. Recent genetic discoveries have improved our understanding on the pathophysiology of aldosterone production and triggered the development of new diagnostic procedures and targeted treatments for PA. Recent findings: Different inherited genetic abnormalities distinguish specific forms of familial hyperaldosteronism. Somatic mutations are found not only in aldosterone producing adenoma leading to primary aldosteronism, but also in aldosterone producing cell clusters of normal and micronodules from image-negative adrenal glands. Genetic knowledge has allowed the discovery of surrogate biomarkers and specific pharmacological inhibitors. Aging appears to be associated with dysregulated and relatively autonomous aldosterone production. Summary: New biochemical markers and pharmacological approaches may allow pre-operative identification of somatic mutation carriers and use of targeted treatments.
Fichier principal
Vignette du fichier
Zennaro MC_Overview of aldosterone-related genetic syndromes.pdf (747.81 Ko) Télécharger le fichier
Origin : Files produced by the author(s)

Dates and versions

inserm-03554660 , version 1 (03-02-2022)

Identifiers

Cite

Maria-Christina Zennaro, Fabio Fernandes-Rosa, Sheerazed Boulkroun. Overview of aldosterone-related genetic syndromes and recent advances. Current Opinion in Endocrinology, Diabetes and Obesity, 2018, 25 (3), pp.147-154. ⟨10.1097/MED.0000000000000409⟩. ⟨inserm-03554660⟩
38 View
77 Download

Altmetric

Share

Gmail Facebook Twitter LinkedIn More