In the present work, we describe an already known mutation in a new patient affected by apparent mineralocorticoid excess, which results in an arginine-to-cysteine mutation (R213C) in the 11betaHSD2 enzyme. [ncbi.nlm.nih.gov]

• Congestive Heart Failure

  Plasma parathyroid hormone and risk of congestive heart failure in the community. Eur J Heart Fail. 2010;12:1186–92. [doi.org]

  Plasma parathyroid hormone and risk of congestive heart failure in the community. Eur J Heart Fail. 2010; 12 :1186–1192. [ncbi.nlm.nih.gov]

• Noncompliance

  […] effects (gynecomastia, decreased libido, menstrual irregularities, and erectile dysfunction). 32, 33 These sexual side effects are of particular concern, because patients are typically unwilling to tolerate them, and they are often a major reason for noncompliance [retinalphysician.com]

• Polydipsia

  Clinical description AME is usually diagnosed within the first years of life and is characterized by polyuria and polydipsia, failure to thrive, severe hypertension with low renin and aldosterone levels, profound hypokalemia with metabolic alkalosis, [orpha.net]

• Hypertension

  Keywords: Aldosterone, aldosteronism, angiotensin, endocrine hypertension, hypertension, inherited hypertension, mineralocorticoid hypertension, renin, secondary hypertension How to cite this article: Gupta V. Mineralocorticoid hypertension. [ijem.in]

  KEYWORDS: aldosterone; genetics; hypertension; low-renin; mineralocorticoid receptor; renin [ncbi.nlm.nih.gov]

• Diastolic Hypertension

  It is associated with severe systolic and diastolic hypertension. Hypertensive retinopathy appears to be common with these tumors. They usually occur in relatively young patients, with a mean age of 24 years (range 7 to 58 years). [ijem.in]

• Amenorrhea

  PubMed | CrossRef 29 Levitt JI: Spironolactone therapy and amenorrhea. JAMA. 1970, 211 :2014–5. [doi.org]

  Spironolactone therapy and amenorrhea. JAMA. 1970; 211 :2014–5. doi: 10.1001/jama.1970.03170120058015. [ PubMed ] [ CrossRef ] [ Google Scholar ] 30. Jeunemaitre X, Chatellier G, Kreft-Jais C, Charru A, DeVries C, Plouin PF, Corvol P, Menard J. [ncbi.nlm.nih.gov]

  More severe forms are associated with primary amenorrhea and no pubertal development. [ijem.in]

• Irregular Menstruation

  In females: Milder forms can be associated with normal or irregular menstruation. More severe forms are associated with primary amenorrhea and no pubertal development. [ijem.in]

Eplerenone treatment alone decreased a number of important muscle-specific genes. [ncbi.nlm.nih.gov]

Prognosis In the absence of treatment, the prognosis for AME is severe with malignant hypertension, stroke, cardiac and renal insufficiency. However, the prognosis for patients with appropriate treatment appears to be good. [orpha.net]

(See "Overview of the therapy of heart failure with reduced ejection fraction" and "Treatment and prognosis of heart failure with preserved ejection fraction" .) [uptodate.com]

This group also had a good prognosis and full recovery was the rule in the majority of cases after cessation of licorice and potassium replacement. [doi.org]

Intensive investigation of individuals with a well-defined etiology of hypertension and the absence of diurnal variation of BP may lead to further hypotheses that will define the role of both autonomic and nonautonomic factors in BP control. [ncbi.nlm.nih.gov]

[…] is a hereditary defect in 11β-hydroxysteroid dehydrogenase causing hypertension hypokalemia metabolic alkalosis these findings are similar to those in primary aldosteronism Epidemiology demographics early childhood onset risk factors family history Etiology [medbullets.com]

Etiology AME is caused by homozygous or compound heterozygous loss-of-function mutations or deletions in the HSD11B2 gene (16q22). [orpha.net]

It gives compreensive coverage of the epidemiology, aetiology, and mechanism of disease, as well as clear, unambiguous coverage of the diagnosis, practical management and prevention of the entire spectrum of medical disorders. [books.google.com]

Clinical definition S yndrome of A pparent M ineralocorticoid E xcess ( SAME ) is a hereditary defect in 11β-hydroxysteroid dehydrogenase causing hypertension hypokalemia metabolic alkalosis these findings are similar to those in primary aldosteronism Epidemiology [medbullets.com]

Summary Epidemiology Prevalence is difficult to estimate and likely varies between populations depending on the level of consanguinity. Less than 100 cases have been reported in the literature so far. [orpha.net]

Diseases, Wroclaw Medical University, Wroclaw, Poland. 16 Department of Cardiovascular Sciences, University of Leicester, BHF Cardiovascular Research Centre, Glenfield Hospital, Groby Rd, Leicester, LE3 9QP, UK. 17 Academic Medical Center, Clinical Epidemiology [ncbi.nlm.nih.gov]

In trials reporting estimated glomerular filtration rate (eGFR) calculation method included Modification of Diet in Renal Disease (MDRD); Cockcroft Gault creatinine clearance (CrCl) and Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) tools [bmcnephrol.biomedcentral.com]

It is concluded that the mutations identified in 4 of these 5 patients with PHA are polymorphisms, which on their own have no apparent pathophysiological significance. [ncbi.nlm.nih.gov]

Reorganized to mirror your changing practice, each cardiovascular-problem-based section offers a chapter on pharmacologic treatment (with a minimum of pathophysiology)...a chapter on catheter-based or minimally invasive interventions...and a discussion [books.google.com]

Potential preventative and therapeutic strategies directed in the prevention of MR activation and CV disease are also discussed. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2017. [ncbi.nlm.nih.gov]

The potential mechanisms of such an effect on mortality in ST-segment elevation MI may be a prevention of the arterial occlusion-related adverse remodeling and/or potentially lethal arrhythmia, as suggested by the authors. [action-coeur.org]

D5W must be provided to prevent further hypoglycemia or to prevent hypoglycemia from occurring if the patient is not hypoglycemic. [emedicine.medscape.com]