Mai Xurong, Kometani Mitsuhiro, Kato Toshiaki, Aiga Ko, Karashima Shigehiro, Aono Daisuke, Konishi Seigo, Nishimoto Koshiro, Hosomichi Kazuyoshi, Watanabe Atsushi, Noda Yuko, Takeda Yoshiyu, Yoneda Takashi
Department of Health Promotion and Medicine of the Future, Kanazawa University Graduate School of Medicine, Ishikawa 920-8641, Japan.
Department of Uro-Oncology, International Medical Center Saitama Medical University, Saitama 350-1298, Japan.
Endocr J. 2025 Feb 3;72(2):193-203. doi: 10.1507/endocrj.EJ24-0150. Epub 2024 Nov 26.
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. Three cases were complicated by primary aldosteronism. Compared to 15 other patients without primary aldosteronism complications, these three patients had a greater suppression of plasma renin activity (0.2 vs. 2.3 ng/mL/h, p < 0.01) and a higher aldosterone-to-renin ratio (p < 0.01). No significant differences were found in blood pressure, serum potassium levels, or plasma aldosterone concentrations between the two groups. In genetic analysis, among the three patients with pheochromocytoma and primary aldosteronism, two had a KCNJ5 (G151R) mutation in the pheochromocytoma tumor tissues. However, no CYP11B2- or CYP11B1-positive cells were detected via immunostaining in the pheochromocytoma tissues of these three patients. To our knowledge, this is the first study to reveal the presence of the KCNJ5 mutation, commonly considered specific to primary aldosteronism, in pheochromocytoma cases clinically complicated by primary aldosteronism. The findings suggest that patients with pheochromocytoma and suppressed plasma renin activity should be assessed for primary aldosteronism.
嗜铬细胞瘤是肾上腺性高血压的一种罕见形式。本研究旨在调查嗜铬细胞瘤和原发性醛固酮增多症患者的临床特征及相关基因突变。我们回顾性分析了2011年至2022年间确诊并接受治疗的23例嗜铬细胞瘤患者的数据。其中3例合并原发性醛固酮增多症。与另外15例无原发性醛固酮增多症并发症的患者相比，这3例患者的血浆肾素活性抑制程度更高（0.2 vs. 2.3 ng/mL/h，p < 0.01），醛固酮/肾素比值更高（p < 0.01）。两组在血压、血清钾水平或血浆醛固酮浓度方面未发现显著差异。在基因分析中，在这3例嗜铬细胞瘤合并原发性醛固酮增多症的患者中，有2例在嗜铬细胞瘤肿瘤组织中存在KCNJ5（G151R）突变。然而，通过免疫染色在这3例患者的嗜铬细胞瘤组织中未检测到CYP11B2或CYP11B1阳性细胞。据我们所知，这是第一项揭示在临床上合并原发性醛固酮增多症的嗜铬细胞瘤病例中存在通常被认为是原发性醛固酮增多症特有的KCNJ5突变的研究。研究结果表明，对于血浆肾素活性受抑制的嗜铬细胞瘤患者，应评估其是否患有原发性醛固酮增多症。
