[Primary aldosteronism: new insights into familial forms]
SourceNederlands Tijdschrift voor Geneeskunde, 159, (2015), pp. A8932
Article / Letter to editor
Display more detailsDisplay less details
Paediatrics - OUD tm 2017
Nederlands Tijdschrift voor Geneeskunde
SubjectRadboudumc 16: Vascular damage RIHS: Radboud Institute for Health Sciences; Radboudumc 16: Vascular damage RIMLS: Radboud Institute for Molecular Life Sciences
- 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.
Upload full text
Use your RU credentials (u/z-number and password) tolog in with SURFconextto upload a file for processing by the repository team.