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Review
. 2023 Mar 6:14:1061704.
doi: 10.3389/fendo.2023.1061704. eCollection 2023.

Cardiovascular and metabolic characters of KCNJ5 somatic mutations in primary aldosteronism

Yi-Yao Chang  1   2 , Bo-Ching Lee  3 , Zheng-Wei Chen  4 , Cheng-Hsuan Tsai  5 , Chin-Chen Chang  3 , Che-Wei Liao  6 , Chien-Ting Pan  4 , Kang-Yung Peng  5 , Chia-Hung Chou  7 , Ching-Chu Lu  8 , Vin-Cent Wu  9 , Chi-Sheng Hung  5   10 , Yen-Hung Lin  5   10 ; TAIPAI study group
Affiliations
Review

Cardiovascular and metabolic characters of KCNJ5 somatic mutations in primary aldosteronism

Yi-Yao Chang et al. Front Endocrinol (Lausanne). .

Abstract

Background: Primary aldosteronism (PA) is the leading cause of curable endocrine hypertension, which is associated with a higher risk of cardiovascular and metabolic insults compared to essential hypertension. Aldosterone-producing adenoma (APA) is a major cause of PA, which can be treated with adrenalectomy. Somatic mutations are the main pathogenesis of aldosterone overproduction in APA, of which KCNJ5 somatic mutations are most common, especially in Asian countries. This article aimed to review the literature on the impacts of KCNJ5 somatic mutations on systemic organ damage.

Evidence acquisition: PubMed literature research using keywords combination, including "aldosterone-producing adenoma," "somatic mutations," "KCNJ5," "organ damage," "cardiovascular," "diastolic function," "metabolic syndrome," "autonomous cortisol secretion," etc.

Results: APA patients with KCNJ5 somatic mutations are generally younger, female, have higher aldosterone levels, lower potassium levels, larger tumor size, and higher hypertension cure rate after adrenalectomy. This review focuses on the cardiovascular and metabolic aspects of KCNJ5 somatic mutations in APA patients, including left ventricular remodeling and diastolic function, abdominal aortic thickness and calcification, arterial stiffness, metabolic syndrome, abdominal adipose tissue, and correlation with autonomous cortisol secretion. Furthermore, we discuss modalities to differentiate the types of mutations before surgery.

Conclusion: KCNJ5 somatic mutations in patients with APA had higher left ventricular mass (LVM), more impaired diastolic function, thicker aortic wall, lower incidence of metabolic syndrome, and possibly a lower incidence of concurrent autonomous cortisol secretion, but better improvement in LVM, diastolic function, arterial stiffness, and aortic wall thickness after adrenalectomy compared to patients without KCNJ5 mutations.

Keywords: KCNJ5; adrenocortical adenoma; autonomous cortisol secretion (ACS); cardiovascular system; metabolic syndrome; somatic mutation.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
Somatic mutations related pathogenesis of aldosterone producing adenomas. *PMCA3: plasma membrane calcium-transporting ATPase 3.
Figure 2
Figure 2
The schematic diagram of the effect of KCNJ5 somatic mutations on target organ damage in patients with aldosterone producing adenoma. *~: similar results between patients with or without KCNJ5 somatic mutations. *Δ (+): Improvement after adrenalectomy. *Δ (-): Deterioration after adrenalectomy.
See this image and copyright information in PMC

References

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