Abstract/Summary:

The last decade has witnessed enormous progresses in understanding the molecular basis of human PA, both its sporadic (reviewed elsewhere18) and its familial forms. Genetic testing is already available for FH-1—the first familial form to be clarified at the molecular level—as well as for the other forms. In some forms of FH, this progress already opened the way to personalized treatment. For example, the reason why low-dose dexamethasone is highly effective in correcting PA and lowering blood pressure in FH-1 not only received an explanation at the molecular level but also has allowed pinpointing which patients with familial PA should receive this therapy. This field has received further impulse from the more recent discovery that the altered electrophysiology caused by the KCNJ5 mutations L168R and G151R can be specifically corrected in vitro and ex vivo with macrolides antibiotics. In fact, these findings can open the way to personalized diagnosis and treatment of PA caused by these mutations—a hypothesis now being tested in the MAPA study (Macrolides for KCNJ5-Mutated Aldosterone-Producing Adenoma) and to be further explored in the same patients with FH-3. As molecular, electrophysiological, and pharmacological research will be further expanded, there is no doubt that the development of specific drugs interfering with the function of mutated channels could be foreseen in the near future as a personalized treatment for the other familial forms.

Authors: Livia Lenzini, Selene Prisco, Brasilina Caroccia, Gian Paolo Rossi
Keywords: familial primary aldosteronism, FH-1, FH-2, FH-3
DOI Number: 10.1161/HYPERTENSIONAHA.118.11150      Publication Year: 2018

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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.