title: [Genetic alterations in primary aldosteronism].
abstract: Primary aldostéronism (PA) is the most frequent form of arterial hypertension. It is caused in the majority of cases by an aldosterone producing adenoma (APA) of the adrenal cortex or by bilateral adrenal hyperplasia. Recent advances have allowed to identify a certain number of genetic abnormalities involved in the development of APA or responsible for familial forms of PA. These findings have highlighted the central role of calcium signaling in this process. In this review we will discuss the genetic defects associated with PA and discuss the mechanisms whereby they lead to increased aldosterone production and cell proliferation. The possible consequences that this knowledge will have on the diagnosis and management of PA will be addressed.
authors.affiliation: Inserm, UMRS 970, Paris-centre de recherche cardiovasculaire, 56, rue Leblanc, 75015 Paris, France - Université Paris Descartes, Sorbonne Paris Cité, Paris, France - Assistance publique-hôpitaux de Paris, service de génétique, hôpital européen Georges Pompidou, Paris, France.
authors.forename: Maria-Christina
authors.initials: MC
authors.lastname: Zennaro
authors.affiliation: Inserm, UMRS 970, Paris-centre de recherche cardiovasculaire, 56, rue Leblanc, 75015 Paris, France - Université Paris Descartes, Sorbonne Paris Cité, Paris, France - Assistance publique-hôpitaux de Paris, service de génétique, hôpital européen Georges Pompidou, Paris, France.
authors.forename: Fabio
authors.initials: F
authors.lastname: Fernandes-Rosa
authors.affiliation: Inserm, UMRS 970, Paris-centre de recherche cardiovasculaire, 56, rue Leblanc, 75015 Paris, France - Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
authors.forename: Sheerazed
authors.initials: S
authors.lastname: Boulkroun
mesh_terms: D000306:Adrenal Cortex Neoplasms / Q000235:genetics / Q000378:metabolism; D018246:Adrenocortical Adenoma / Q000235:genetics / Q000378:metabolism; D000450:Aldosterone / Q000378:metabolism; D000818:Animals; D020746:Calcium Channels, L-Type / Q000235:genetics; D051676:G Protein-Coupled Inwardly-Rectifying Potassium Channels / Q000235:genetics; D006801:Humans; D006929:Hyperaldosteronism / Q000150:complications / Q000235:genetics*; D006973:Hypertension / Q000209:etiology; D011110:Polymorphism, Genetic
chemical_list: C472073:CACNA1D protein, human; D020746:Calcium Channels, L-Type; D051676:G Protein-Coupled Inwardly-Rectifying Potassium Channels; C484274:KCNJ5 protein, human; D000450:Aldosterone