Dr. Conn Lives On: Insights Into Screening and Genetics of Primary Aldosteronism

Abstract/Summary:

Although we acknowledge that somatic mutations are present in at least 50% of APAs, genetic sequencing of APAs is still a research tool, and its clinical use is yet unknown. Despite that we have discerned the various somatic mutations more likely to occur in different genders and racial groups, optimized protocols by which these observations can be reasonably applied to personalized medicine are enigmatic. Currently, treatment does not differ whether a somatic mutation is present or not. It is now more than 6 decades since Conn’s original description of PA. Our knowledge base has been enhanced by molecular science, and screening for PA is improved. Plus, we have more antihypertensive medication choices, although mineralocorticoid-receptor antagonism in PA remains medicamentum electio. We must endeavor to diagnose this disorder earlier to effect surgical cures, where applicable, and prevent cardiovascular complications. After all, it was Dr. Conn’s tenet that up to 20% of individuals with essential hypertension might actually have PA.

Authors: Debbie L. Stein, Jerry Yee
Keywords: aldosteronism, ARR, genetic mutations, APA
DOI Number: 10.1053/j.ackd.2019.03.018      Publication Year: 2019

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©2021 Primary Aldosteronism Foundation

The Primary Aldosteronism Foundation is a registered 501(c)(3) public charity. Donations are tax deductible in the US.