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How do you approach the use of genetic testing in patients older than 30 years with resistant hypertension and hypokalemia, but with a normal aldosterone to renin ratio and no known family history of hypertension?

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How do you approach genetic testing in patients over 30 with resistant hypertension and hypokalemia but a normal aldosterone to renin ratio and no family history?

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1 Answer
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Nephrology · Boston University Chobanian & Avedisian School of Medicine
Answered on

I am starting to use genetic testing more frequently now on patients like this, even though the absence of family history makes monogenic HTN less likely. Once other causes of hypertension with hypokalemia (Cushing syndrome, ectopic ACTH, licorice, etc.) are excluded, I think genetic testing may help identify the mechanism of hypertension (particularly if both renin and aldosterone are low) and may also help patients understand why they need lifelong treatment (important to ensure adherence for long-term therapy).

In this particular scenario, normal ARR but hypokalemia may fit better with Liddle syndrome or AME phenotypes. Instead of genetic testing, one might consider just empirically treating with amiloride as that may serve as both a the...

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