What is the genetic basis of type 3 familial aldosteronism?

Updated: Mar 24, 2020
  • Author: Gabriel I Uwaifo, MD; Chief Editor: Romesh Khardori, MD, PhD, FACP  more...
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Answer

The genetic basis for type 3 familial aldosteronism has recently been deciphered. Mutations in the KCNJ5 potassium channel-coding gene results in loss of ion selectivity, cell membrane depolarization, increased Ca2+ entry in adrenal glomerulosa cells, and increased aldosterone synthesis. [4]


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