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Overview of aldosterone-related genetic syndromes and recent advances

Zennaro, Maria-Christinaa,b,c; Fernandes-Rosa, Fabio, L.a,b,c; Boulkroun, Sheerazeda,b

Current Opinion in Endocrinology, Diabetes and Obesity: June 2018 - Volume 25 - Issue 3 - p 147–154
doi: 10.1097/MED.0000000000000409
ADRENAL CORTEX AND MEDULLA: Edited by Anand Vaidya

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 primary aldosteronism.

Recent findings Different inherited genetic abnormalities distinguish specific forms of familial hyperaldosteronism. Somatic mutations are found not only in aldosterone-producing adenoma (APA), 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. Ageing appears to be associated with dysregulated and relatively autonomous aldosterone production.

Summary New biochemical markers and pharmacological approaches may allow preoperative identification of somatic mutation carriers and use of targeted treatments.

aINSERM, UMRS_970, Paris Cardiovascular Research Center

bUniversité Paris Descartes, Sorbonne Paris Cité

cAssistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Genetics Department, Paris, France

Correspondence to Maria-Christina Zennaro, MD, PhD, INSERM, UMRS_970, Paris Cardiovascular Research Center – PARCC, 56, rue Leblanc, 75015 Paris, France. Tel: +33 0 1 53 98 80 42; fax: +33 0 1 53 98 79 52; e-mail: maria-christina.zennaro@inserm.fr

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