Abstract
Primary aldosteronism (PA) is the most common form of secondary hypertension, with a prevalence of 5–10% among patients with hypertension. PA is mainly classified into two subtypes: aldosterone-producing adenoma (APA) and bilateral idiopathic hyperaldosteronism. Recent developments in genetic analysis have facilitated the discovery of mutations in KCNJ5, ATP1A1, ATP2B3, CACNA1D, CACNA1H, CLCN2, and CTNNB1 in sporadic or familial forms of PA in the last decade. These findings have greatly advanced our understanding of the mechanism of excess aldosterone synthesis, particularly in APA. Most of the causative genes encode ion channels or pumps, and their mutations lead to depolarization of the cell membrane due to impairment of ion transport. Depolarization activates voltage-gated Ca2+ channels and intracellular calcium signaling and promotes the transcription of aldosterone synthase, resulting in overproduction of aldosterone. In this article, we review recent findings on the genetic and molecular mechanisms of PA.
Highlights
Aldosterone is synthesized in the adrenal cortex and plays an essential role in regulating blood pressure by promoting sodium reabsorption in the kidney
Primary aldosteronism (PA) is mainly classified into two subtypes: aldosterone-producing adenoma (APA) and bilateral idiopathic hyperaldosteronism (BHA)
18-hydroxycortisol are likely to be higher in patients with KCNJ5-mutated aldosterone-producing adenoma (APA), while they are very low in normal adults
Summary
Aldosterone is synthesized in the adrenal cortex and plays an essential role in regulating blood pressure by promoting sodium reabsorption in the kidney. A meta-analysis showed that APA patients with KCNJ5 mutation have phenotypic features of higher plasma aldosterone levels, young age, female sex, and larger tumor size [51]. There was a report of the early-onset PA with de novo KCNJ5 G151R germline mutation and no adrenal enlargement whose symptoms were successfully controlled by MRA, indicating that diverse clinical phenotype in FH type 3. There was a report of the early-onset PA with de novo KCNJ5 G151R germline mutation and no adrenal enlargement whose symptoms were successfully controlled by MRA, indicating that diverse clinical phenotype in FH type 3 cannot be defined solelybe bydefined. 18-hydroxycortisol are likely to be higher in patients with KCNJ5-mutated aldosterone-producing adenoma (APA), while they are very low in normal adults.
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