The Genetics of Primary Aldosteronism

Primary aldosteronism (PA) is the commonest single cause of hypertension. PA can result from two major types of adrenal lesion: an aldosterone-producing adenoma (APA) which is treated surgically, or bilateral adrenal hyperplasia which is treated medically. Currently, however, PA is under-diagnosed, and only a few patients undergo treatment in time to prevent development of hypertension that has become refractory to medical treatment or surgical removal of the APA. Developments in genetics (specifically, the DNA sequencing of whole exomes) and imaging (a specific 11C-metomidate PET CT for detection of APAs) have come to the rescue. Within two years, these developments have gone from proving and explaining the existence of many more APAs than hitherto acknowledged, to offering solutions for early detection. We can now aspire to cure hypertension in 5-10% of all patients. Please click  PDF  below to download the full paper...