Prevalence and Clinical Correlates of Somatic Mutation in Aldosterone Producing Adenoma-Taiwanese Population


Primary aldosteronism (PA) is a common form of secondary hypertension and has significant cardiovascular consequences. Mutated channelopathy due to the activation of calcium channels has been recently described in aldosterone-producing adenoma (APA). The study involved 148 consecutive PA patients, (66 males; aged 56.3 ± 12.3years) who received adrenalectomy, and were collected from the Taiwan PA investigator (TAIPAI) group. A high rate of somatic mutation in APA was found (n=91, 61.5%); including mutations in KCNJ5 (n=88, 59.5%), ATP1A1 (n=2, 1.4%), and ATP2B3 (n=1, 0.7%); however, no mutations in CACNA1D were identified. Mutation-carriers were younger (<0.001), had lower Cyst C (p=0.042), pulse wave velocity (p=0.027), C-reactive protein (p=0.042) and a lower rate of proteinuria (p=0.031) than non-carriers. After multivariate adjustment, mutation carriers had lower serum CRP levels than non-carriers (p=0.031). Patients with mutation also had a greater chance of recovery from hypertension after operation (p=0.005). A high incidence of somatic mutations in APA was identified in the Taiwanese population. Mutation-carriers had lower CRP levels and a higher rate of cure of hypertension after adrenalectomy. This raises the possibility of using mutation screening as a tool in predicting long-term outcome after adrenalectomy.

Authors: Vin-Cent Wu, Kuo-How Huang, Kang-Yung Peng, Yao-Chou Tsai, Che-Hsiung Wu, Shuo-Meng Wang, Shao-Yu Yang, Lian-Yu Lin, Chin-Chen Chang, Yen-Hung Lin, Shuei-Liong Lin, Tzong-Shinn Chu, Kwan-Dun Wu
Keywords: somatic mutations in aldosteronism, mutated channelopathy, calcium channel
DOI Number: 10.1038/srep11396      Publication Year: 2015

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