Endocrine Abstracts

Primary aldosteronism (PA) is the most common form of endocrine hypertension. The two main causes of PA are aldosterone producing adenoma (APA) and bilateral adrenal hyperplasia (BAH). Efficient and timely screening for PA is of major importance, given the severe cardiovascular outcome of aldosterone excess that is independent of blood pressure levels. Yet, the pathogenic mechanisms leading to aldosterone hypersecretion and cell proliferation are largely unknown.<p class="...

Potassium channels regulate the membrane voltage of aldosterone-producing glomerulosa cells in the adrenal glands. They are required for the unique K+ sensitivity of these cells and are targets of angiotensin II signaling. Several K+ channels show high levels of expression in the adrenal cortex and are believed to be important for the control of hormone secretion, e.g. KCNJ5, TASK1, TASK3, KCNMA1, and KCNQ1.In a pioneering study, Li...

Background: Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration. Inactivating mutations of the NR3C2 gene, coding for the mineralocorticoid receptor (MR) are responsible for the vast majority of autosomal dominant and sporadic cases of renal PHA1. The underlying pathogenic mechanism involves both haploinsufficiency as well as a dominant negative mecha...

Primary Aldosteronism (PA) is the most frequent cause of endocrine hypertension. Three forms of familial hyperaldosteronism (FH) have been described, named FH-I to -III. Recently, a mutation of KCNJ5 has been shown to be associated with FH-III, whereas the cause of FH-II is still unknown. In this study we searched for mutations in KCNJ5 in 46 patients from 21 families with FH, in which FH-I was excluded. We identified a new germline G151E mutation in two PA affected subjects f...