Prevalence and clinical correlates of somatic mutation in aldosterone producing adenoma-Taiwanese population

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

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Abstract

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.

Original languageEnglish
Article number11396
JournalScientific Reports
Volume5
DOIs
Publication statusPublished - Jun 12 2015
Externally publishedYes

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    Wu, V. C., Huang, K. H., Peng, K. Y., Tsai, Y. C., Wu, C. H., Wang, S. M., Yang, S. Y., Lin, L. Y., Chang, C. C., Lin, Y. H., Lin, S. L., Chu, T. S., & Wu, K. D. (2015). Prevalence and clinical correlates of somatic mutation in aldosterone producing adenoma-Taiwanese population. Scientific Reports, 5, [11396]. https://doi.org/10.1038/srep11396