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Endocrine Abstracts (2016) 41 S8.3 | DOI: 10.1530/endoabs.41.S8.3

ECE2016 Symposia Primary aldosteronism (3 abstracts)

Adrenal lessons from next-generation sequencing

Maria-Christina Zennaro


France.


Primary aldosteronism (PA) is the most common form of secondary hypertension. In the majority of cases it is caused by unilateral aldosterone producing adenoma (APA) or by bilateral adrenal hyperplasia. Although the majority of cases of PA are sporadic, the disease may occur in the context of familial hyperaldosteronism where it is associated with specific germline mutations. Recent advances in genome technology have improved our understanding on the genetic basis of PA, allowing to identify and to characterize new familial forms of the disease as well as somatic mutations involved in APA and to establish a pathophysiological model of APA development. This talk will summarize our current knowledge on the genetic basis of PA and discuss the pathogenic mechanisms leading to increased aldosterone production and cell proliferation. Perspectives for clinical management of patients and open questions to be addressed by future research will be addressed.

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