KCNJ5 mutations are associated with an almost 6-fold increase in the likelihood of clinical improvement by adrenalectomy. Therefore, early detection of KCNJ5 mutations is important. Some patients are hesitant to undergo aggressive treatment because invasive adrenalectomy and sampling of adrenal tumor tissue are necessary for Sanger sequencing and next-generation sequencing at this time. Chen et al. developed a machine-learning model to predict KCNJ5 mutations, using baseline characteristics and laboratory data. As a result, they found that both the full and condensed versions of the prediction model could discover KCNJ5 mutations preoperatively. We believe that precision medicine, non-invasive detection of KCNJ5 mutations, and early adrenalectomy in appropriate patients with APA might prevent vascular failure and ultimately reduce cardiovascular events in patients with APA. The study by Kishimoto et al. revealed the possible associations between KCNJ5 mutations and vascular function and structure, which might potentially lead to the development of better therapeutic strategies in patients with APA.
Abstract/Summary:
Authors: Kota Jojima, Atsushi Tanaka, Koichi Node
Keywords: KCNJ5, mutation
DOI Number: 10.1038/s41440-023-01428-2 Publication Year: 2023
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