Background: While clinical features of KCNJ5-mutated aldosterone-producing adenoma (APA) have been reported, evidence of its clinical outcomes is lacking. We aimed to synthesize available literature about the associations between KCNJ5 mutation with cardiovascular and metabolic outcomes among patients with APA.
Methods: In this systematic review of observational studies, MEDLINE and Embase were searched through August 2022. Two independent authors screened the search results and extracted data from eligible observational studies investigating cardiovascular or metabolic outcomes between KCNJ5-mutated APAs and KCNJ5-non-mutated APAs. Risk of Bias In Non-randomized Studies of Interventions was used to assess the quality of the included studies.
Results: A total of 573 titles/abstracts were screened and after the expert opinion of the literature, full text was read in 20 titles/abstracts, of which 12 studies were included. Across 3 studies comparing the baseline or change in the cardiac function between KCNJ5-mutated APAs and KCNJ5-non-mutated APAs, all studies reported the association between impaired cardiac functions and KCNJ5 mutation status. Among 6 studies evaluating the cure of hypertension after surgery, all studies showed that KCNJ5 mutation was significantly associated with the cure of hypertension. In quality assessment, 7 studies were at serious risk of bias, while the remaining studies were at moderate risk of bias.
Conclusions: This systematic review provided evidence of the significant association between KCNJ5 mutation and unfavorable cardiovascular outcomes in patients with primary aldosteronism. Further research is needed to improve the quality of evidence on this topic and elucidate the underlying mechanisms of the potential burden of KCNJ5 mutation.
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http://dx.doi.org/10.1016/j.eprac.2024.04.007 | DOI Listing |
J Clin Endocrinol Metab
January 2025
Department of Urology, National Taiwan University Hospital, Taipei, Taiwan.
Context: The association between KCNJ5 somatic mutations and long-term outcomes in patients with operated unilateral primary aldosteronism (uPA) is unclear.
Objective: To evaluate associations among KCNJ5 somatic mutations, clinical characteristics, incident long-term cardiovascular events, and all-cause mortality in uPA patients after adrenalectomy in a large longitudinal population study.
Methods: We enrolled uPA patients from the Taiwan Primary Aldosteronism Investigation database who had undergone adrenalectomy between 2013 and 2017 and followed them until 2020.
Biology (Basel)
November 2024
Epigenomic Medicine Laboratory at prospED Polytechnic, Melbourne, VIC 3053, Australia.
Primary aldosteronism is characterised by the excessive production of aldosterone, which is a key regulator of salt metabolism, and is the most common cause of secondary hypertension. Studies have investigated the association between primary aldosteronism and genetic alterations, with pathogenic mutations being identified. This includes a glycine-to-arginine substitution at position 151 (G151R) of the G protein-activated inward rectifier potassium (K) channel 4 (GIRK4), which is encoded by the gene.
View Article and Find Full Text PDFHypertens Res
December 2024
Department of Internal Medicine, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan, ROC.
KCNJ5 somatic mutations in aldosterone-producing adenoma (APA) are linked to higher left ventricular mass index (LVMI) and worse diastolic function. We previously identified an association between plasma tissue inhibitor of metalloproteinases-1 (TIMP-1) and an aldosterone-induced increase in LVMI and diastolic dysfunction. This study aimed to investigate the association between the presence of KCNJ5 somatic mutation and plasma TIMP-1 in APA patients.
View Article and Find Full Text PDFEndocr J
November 2024
Department of Health Promotion and Medicine of the Future, Kanazawa University Graduate School of Medicine, Ishikawa 920-8641, Japan.
Pheochromocytoma is a rare form of adrenal hypertension. This study aimed to investigate the clinical characteristics and associated genetic mutations in patients with pheochromocytoma and primary aldosteronism. We retrospectively analyzed data from 23 patients with pheochromocytoma diagnosed and treated between 2011 and 2022.
View Article and Find Full Text PDFFront Endocrinol (Lausanne)
November 2024
Department of Cardiovascular Medicine, State Key Laboratory of Medical Genomics, Shanghai Key Laboratory of Hypertension, Shanghai Institute of Hypertension, Shanghai, China.
Background: Patients with primary aldosteronism present with renal function decline after unilateral adrenalectomies. Our study aimed to assess the evolution of renal function after adrenalectomy in patients with primary aldosteronism across different age groups and to identify risk factors for postoperative renal function deterioration.
Methods: We included 210 patients with primary aldosteronism categorized into three age groups: <40, 40-60, and ≥60 years old.
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