Searchable abstracts of presentations at key conferences in endocrinology

ea0041gp7 | Adrenal | ECE2016

New germline mutation in CACNA1H calcium channel causing primary aldosteronism

Roomp Kirsten , Grzyb Kamil , Wolf Cristina , Rhayem Yara , Oliver Nuria , Wardas Barbara , Beck Andreas , Pico Antonio , Beuschlein Felix , Skupin Alexander , May Patrick , Schneider Jochen G.

Introduction: Primary aldosteronism (PA) occurs due to an excess production of aldosterone in the adrenal glands, resulting in low renin levels and hypertension. Familial hyperaldosteronism is considered to be a relatively rare disorder, with only a small number of genes having been implicated so far. The aim of the present study is to identify the molecular cause of disease in a PA family, as well as examining the mechanisms in an in vitro setting.<p class="abste...