Clinical, Biochemical, and Genetic Characteristics of “Nonclassic” Apparent Mineralocorticoid Excess Syndrome

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dc.contributor.authorTapia-Castillo, Alejandra
dc.contributor.authorBaudrand, Rene
dc.contributor.authorVaidya, Anand
dc.contributor.authorCampino, Carmen
dc.contributor.authorAllende, Fidel
dc.contributor.authorValdivia, Carolina
dc.contributor.authorVecchiola, Andrea
dc.contributor.authorLagos, Carlos
dc.contributor.authorFuentes, Cristóbal
dc.contributor.authorSolari, Sandra
dc.contributor.authorMartínez-Aguayo, Alejandro
dc.contributor.authorGarcía, Hernán
dc.contributor.authorCarvajal, Cristian
dc.contributor.authorFardella, Carlos
dc.date.accessioned2020-09-07T16:03:05Z
dc.date.available2020-09-07T16:03:05Z
dc.date.issued2019
dc.descriptionCentro de Genética y Genómica(CGG)es
dc.description.abstractContext Classical apparent mineralocorticoid excess (AME) is a rare recessive disorder, caused by severe 11β-hydroxysteroid dehydrogenase type 2 enzyme (11β-HSD2) deficiency. AME manifests as low-renin pediatric hypertension, hypokalemia and high cortisol/cortisone (F/E) ratio. Objective To evaluate nonclassic AME (NC-AME) due to partial 11β-HSD2 insufficiency and its association with hypertension, mineralocorticoid receptor (MR) activation, and inflammatory parameters. Design Cross-sectional study. Setting Primary care cohort. Participants We recruited 127 adolescents and adults. Subjects with secondary hypertension were excluded. We measured clinical, biochemical, renal, vascular, and inflammatory variables. Sequencing of HSD11B2 gene was performed in all subjects. Main Outcome Measure NC-AME. Results Serum F/E ratio was positively associated with systolic blood pressure (BP), microalbuminuria, and high-sensitivity C-reactive protein (hs-CRP). Serum cortisone correlated with MR activation parameters even when adjusted for age, body mass index, and sex: lower cortisone with higher potassium excretion (partial r = −0.29, P = 0.002) and with lower plasma renin activity (PRA) (partial r = 0.29, P = 0.001). Consistently, we identified 9 in 127 subjects (7.1%) with high F/E ratios (first quartile) and low cortisone (last quartile), suggestive of NC-AME. These subjects had higher systolic BP, 141.4 ± 25.7 mm Hg vs 127.3 ± 18.1 mm Hg, P = 0.03; lower PRA, 0.36 ± 0.19 ng/L*s vs 0.64 ± 0.47 ng/L*s, P < 0.0001; and greater potassium excretion, microalbuminuria, hs-CRP, and plasminogen activator inhibitor. We only found in 2 out of 9 subjects with NC-AME heterozygous mutations in the HSD11B2 gene. Conclusions These findings suggest a spectrum of partial 11β-HSD2 insufficiency in a primary care cohort without the classic phenotype and genotype of AME. NC-AME may represent a phenotype of MR activation and cardiovascular risk, suggesting that these subjects could be treated with MR antagonists.es
dc.description.versionVersión publicada
dc.identifier.citationAlejandra Tapia-Castillo, Rene Baudrand, Anand Vaidya, Carmen Campino, Fidel Allende, Carolina Valdivia, Andrea Vecchiola, Carlos F Lagos, Cristóbal A Fuentes, Sandra Solari, Alejandro Martínez-Aguayo, Hernán García, Cristian A Carvajal, Carlos E Fardella, Clinical, Biochemical, and Genetic Characteristics of “Nonclassic” Apparent Mineralocorticoid Excess Syndrome, The Journal of Clinical Endocrinology & Metabolism, Volume 104, Issue 2, February 2019, Pages 595–603, https://doi.org/10.1210/jc.2018-01197es
dc.identifier.urihttps://doi.org/10.1210/jc.2018-01197es
dc.identifier.urihttp://hdl.handle.net/11447/3407
dc.language.isoenes
dc.publisherOxford University Presses
dc.sourceThe Journal of Clinical Endocrinology & Metabolism
dc.subjectApparent mineralocorticoid excess (AME)es
dc.subjectHypertensiones
dc.subjectMineralocorticoid receptor (MR)es
dc.subjectInflammatory parameteres
dc.titleClinical, Biochemical, and Genetic Characteristics of “Nonclassic” Apparent Mineralocorticoid Excess Syndromees
dc.typeArticlees

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