Endocrine Abstracts

Arterial hypertension is a major cardiovascular risk factor that affects between 10 and 40% of the population in industrialized countries. Primary aldosteronism (PA) is the most common form of secondary hypertension with an estimated prevalence of ~10% in referred patients and 4% in primary care. Despite its high prevalence until recently the underlying genetic and molecular basis of this common disease has remained largely obscure with the exception of the small subgroup of patients with familial hyperaldosteronism type I.

Over the past decade a number of insights have been achieved that rely on in vitro cellular systems, wild-type and genetically modified in vivo models as well as pre-clinical and clinical studies in well-characterized patient populations. This progress has been made possible by a number of independent technical developments including that of specific hormone assays that allow measurement in small sample volumes as well as genetic techniques that enable high throughput sequencing of a large number of samples. Furthermore, animal models have provided important insights in the physiology of aldosterone regulation that have served as a starting point for investigation of mechanisms involved in autonomous aldosterone secretion. Finally, national and international networks that have built up registries and biobanks have been instrumental to foster translational research endeavors in PA.

Recently, a number of approaches including genome wide association studies, exome sequencing and mutagenesis screens have been applied in patient cohorts and in vivo models of PA. Thereby, it is to be expected that in the near future further pathophysiological mechanisms that result in autonomous aldosterone secretion will be unraveled.