[Primary aldosteronism: new insights into familial forms]

- Primary aldosteronism (PA) is characterized by autonomic aldosterone production, usually leading to severe hypertension and hypokalaemia. - PA is a heterogeneous condition caused by sporadic adrenal adenoma, bilateral adrenal hyperplasia or rare familial forms.- Familial aldosteronism type 1 is caused by a hybrid gene that codes for an ACTH-sensitive form of aldosterone synthase.- Familial aldosteronism type 3 was recently recognized as a new form of PA caused by mutation in KCNJ5. The clinical manifestations vary from life-threatening PA and pronounced adrenal hyperplasia to milder forms.- In addition to germline mutations in KCNJ5, somatic KCNJ5 mutations are present in about 40% of aldosterone-producing adrenal adenomas. Mutations in three other genes are also regularly observed.- All these mutations cause increased aldosterone synthase activity, eventually leading to PA.- In patients under 20 with PA, familial forms must be excluded before proceeding to adrenalectomy