ArticleArchives of endocrinology and metabolism2025
Molecular investigation of primary aldosteronism: exploring genetic heterogeneity in understudied populations.
Article in Archives of endocrinology and metabolism, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Targeting Plasma Membrane CaCancers · 2026Review
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6 authors.
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No grant is acknowledged in the PubMed record.
Abstract
objectiveGenetic abnormalities in ion channels that regulate the depolarization of adrenal glomerular cell plasma membranes have been identified as a cause of primary aldosteronism (PA) due to aldosterone-producing adenoma (APA). This study aimed to evaluate somatic variants in the KCNJ5, CACNA1D, CLCN2, ATP1A1, ATP2B3, GNAQ, GNA11, and CTNNB1 genes, assess the genotype-phenotype correlation, and analyze the outcomes in patients with APA from a heterogenic ethnic population. SUBJECTS AND
methodsClinical, biochemical, and molecular data were obtained from 32 patients.
resultsPathogenic variants (PVs) were identified in 43.7% (14/32) of the patients. PVs occurred in 31.2% (10/32) of the KCNJ5 gene: p.Leu168Arg (15.6%), p.Gly151Arg (9.3%), p.Glu145Gln (3.2%), and p.Gly151_Tyr152del (3.2%). In the CLCN2 gene, two PVs (6.25%), p.Pro48Arg and p.Ala195Thr, were identified; the latter was found in association with p.Glu145Gln in the KCNJ5 gene within the same APA. Additionally, two PVs were found in ATPase genes: p.Leu104Arg in ATP1A1 (3.2%) and p.Leu425_Val426del in ATP2B3 (3.2%). No PVs were identified in the other examined genes. Patients with KCNJ5 PVs were predominantly female (90% vs. 45.5%; p = 0.01), had an earlier age of PA diagnosis (38 vs. 54 years; p = 0.04), and exhibited fewer electrocardiogram abnormalities (20% vs. 59%; p = 0.04). Patients with PVs across all studied genes also showed an earlier age at PA diagnosis (p = 0.02). The Primary Aldosteronism Surgical Outcome score revealed that 37.5% of patients met clinical/biochemical cure criteria, 12.5% showed partial improvement in both, while 50% achieved complete biochemical but not clinical remission. Patients carrying PVs had a higher rate of complete clinical and biochemical cure (66.7% vs. 33.3%; p = 0.05).
conclusionIdentifying PVs in this study enhances our understanding of the genetic landscape in Brazilian patients with primary aldosteronism.
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