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

• Published in: The journal of clinical endocrinology and metabolism Vol. 104; no. 2; pp. 595 - 603
• Main Authors: Tapia-Castillo, Alejandra, Baudrand, Rene, Vaidya, Anand, Campino, Carmen, Allende, Fidel, Valdivia, Carolina, Vecchiola, Andrea, Lagos, Carlos F, Fuentes, Cristóbal A, Solari, Sandra, Martínez-Aguayo, Alejandro, García, Hernán, Carvajal, Cristian A, Fardella, Carlos E
• Format: Journal Article
• Language: English
• Published: Washington, DC Endocrine Society 01.02.2019; Copyright Oxford University Press; Oxford University Press
• Subjects: 11-beta-Hydroxysteroid Dehydrogenase Type 2 - genetics; 11β-Hydroxysteroid dehydrogenase; Adolescent; Adult; Angiotensin II; Antagonists; Biochemistry; Biomarkers - blood; Blood pressure; Body mass index; C-reactive protein; Cardiovascular diseases; Chile; Cortisol; Cortisone; Cortisone - blood; Cross-Sectional Studies; Endocrine disorders; Enzymes; Excretion; Female; Genes; Genotypes; Hereditary diseases; HSD11B2 gene; Humans; Hypertension; Hypokalemia; Inflammation; Male; Middle Aged; Mineralocorticoid Excess Syndrome, Apparent - blood; Mineralocorticoid Excess Syndrome, Apparent - diagnosis; Mineralocorticoid Excess Syndrome, Apparent - genetics; Pediatrics; Phenotype; Phenotypes; Plasminogen activator inhibitors; Potassium; Primary care; Renin; Young Adult; Youth; Chile

Abstract Context 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...