Primary Aldosteronism and ARMC5 Variants.

ABSTRACT:

Context

Primary aldosteronism is one of the leading causes of secondary hypertension, causing significant morbidity and mortality. A number of genetic defects have recently been identified in primary aldosteronism, whereas we identified mutations in ARMC5, a tumor-suppressor gene, in cortisol-producing primary macronodular adrenal hyperplasia.

Objective

We investigated a cohort of 56 patients who were referred to the National Institutes of Health for evaluation of primary aldosteronism for ARMC5 defects.

Methods

Patients underwent step-wise diagnosis, with measurement of serum aldosterone and plasma renin activity followed by imaging, saline suppression and/or oral salt loading tests, plus adrenal venous sampling. Cortisol secretion was also evaluated; unilateral or b

SUBMITTER: Zilbermint M 

PROVIDER: S-EPMC4454793 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature