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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

KCNJ5 Somatic Mutation Is a Predictor of Hypertension Remission After Adrenalectomy for Unilateral Primary Aldosteronism

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Vilela, Leticia A. P. [1] ; Rassi-Cruz, Marcela [1] ; Guimaraes, Augusto G. [1] ; Moises, Caio C. S. [1] ; Freitas, Thais C. [1] ; Alencar, Natalia P. [1] ; Petenuci, Janaina [1] ; Goldbaum, Tatiana S. [1] ; Maciel, Ana Alice W. [1] ; Pereira, Maria Adelaide A. [1] ; Silva, V, Giovanio ; Pio-Abreu, Andrea [2] ; Zerbini, Maria Claudia N. [3] ; Cavalcante, Aline C. B. S. [4] ; Carnevale, Francisco C. [4] ; Pilan, Bruna [4] ; Yamauchi, Fernando [4] ; Srougi, Vitor [5] ; Tanno, Fabio Y. [5] ; Chambo, Jose L. [5] ; Latronico, Ana Claudia [1] ; Mendonca, Berenice B. [1] ; Fragoso, V, Maria Candida B. ; Bortolotto, Luiz A. [6] ; Drager, Luciano F. [6, 2] ; Almeida, Madson Q. [7, 8]
Total Authors: 26
Affiliation:
[1] Univ Sao Paulo, Serv Endocrinol & Metabol, Lab Hormonios & Genet Mol LIM 42, Unidade Suprarrenal, Hosp Clin, Fac Med, BR-05403900 Sao Paulo - Brazil
[2] Silva, Giovanio, V, Univ Sao Paulo, Hosp Clin, Unidade Hipertensao Disciplina Nefrol, Fac Med, BR-01246000 Sao Paulo - Brazil
[3] Univ Sao Paulo, Fac Med, Div Anat Patol, BR-05403900 Sao Paulo - Brazil
[4] Univ Sao Paulo, Hosp Clin, Inst Radiol InRad, Fac Med, BR-05402000 Sao Paulo - Brazil
[5] Univ Sao Paulo, Hosp Clin, Fac Med, Servi Urol, BR-05402000 Sao Paulo - Brazil
[6] Univ Sao Paulo, Inst Cora InCor, Fac Med, Unidade Hipertensao, BR-05402000 Sao Paulo - Brazil
[7] Fragoso, Maria Candida B., V, Univ Sao Paulo, Serv Endocrinol & Metabol, Lab Hormonios & Genet Mol LIM 42, Unidade Suprarrenal, Hosp Clin, Fac Med, BR-05403900 Sao Paulo - Brazil
[8] Fragoso, Maria Candida B., V, Univ Sao Paulo, ICESP, Serv Endocrinol, Fac Med, BR-05403010 Sao Paulo - Brazil
Total Affiliations: 8
Document type: Journal article
Source: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM; v. 104, n. 10, p. 4695-4702, OCT 2019.
Web of Science Citations: 0
Abstract

Context: Primary aldosteronism (PA) is the most common cause of endocrine hypertension (HT). HT remission (defined as blood pressure <140/90 mm Hg without antihypertensive drugs) has been reported in approximately 50% of patients with unilateral PA after adrenalectomy. HT duration and severity are predictors of blood pressure response, but the prognostic role of somatic KCNJ5 mutations is unclear. Objective: To determine clinical and molecular features associated with HT remission after adrenalectomy in patients with unilateral PA. Methods: We retrospectively evaluated 100 patients with PA (60 women; median age at diagnosis 48 years with a median follow-up of 26 months). Anatomopathological analysis revealed 90 aldosterone-producing adenomas, 1 carcinoma, and 9 unilateral adrenal hyperplasias. All patients had biochemical cure after unilateral adrenalectomy. KCNJ5 gene was sequenced in 76 cases. Results: KCNJ5 mutations were identified in 33 of 76 (43.4%) tumors: p.Gly151Arg (n = 17), p.Leu168Arg (n = 15), and p.GIu145GIn (n = 1). HT remission was reported in 37 of 100 (37%) patients. Among patients with HT remission, 73% were women (P = 0.04), 48.6% used more than three antihypertensive medications (P= 0.0001), and 64.9% had HT duration <10 years (P= 0.0015) compared with those without HT remission. Somatic KCNJ5 mutations were associated with female sex (P = 0.004), larger nodules (P = 0.001), and HT remission (P = 0.0001). In multivariate analysis, only a somatic KCNJ5 mutation was an independent predictor of HT remission after adrenalectomy (P = 0.004). Conclusion: The presence of a KCNJ5 somatic mutation is an independent predictor of HT remission after unilateral adrenalectomy in patients with unilateral PA. (AU)

FAPESP's process: 15/17049-8 - Genetic investigation of aldosterone-producing adrenocortical tumors by next generation sequencing
Grantee:Madson Queiroz Almeida
Support type: Regular Research Grants