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]

• Failure to Thrive in Infancy

  Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disease of mineralocorticoid resistance characterized by salt wasting and failure to thrive in infancy. [ncbi.nlm.nih.gov]

• Left Flank Pain

  A 62-year-old man with pneumonia and left flank pain had a clinical syndrome of hyponatremia, hypotension, dehydration, and high urinary sodium excretion in the presence of a normal glomerular filtration rate. [ncbi.nlm.nih.gov]

• Hypertension

  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]

• Delayed Wound Healing

  However, and despite their therapeutic efficacy, the long-term use of GCs is limited because of the cutaneous adverse effects including atrophy, delayed wound healing, and increased susceptibility to stress and infections. [ncbi.nlm.nih.gov]

• Fear

  The MR-containing NTS neurons innervate limbic-forebrain circuits enabling aldosterone to also modulate reciprocally arousal, motivation, fear and reward. [ncbi.nlm.nih.gov]

• Anger

  Moreover, we used a facial emotion recognition task to investigate the ability to recognize emotional valence (anger and sadness) from facial expression in four graded categories of emotional intensity (20, 30, 40, and 80 %). [ncbi.nlm.nih.gov]

• Sleep Disturbance

  A recent clinical trial demonstrated that dexamethasone therapy for young patients with acute lymphoblastic leukemia caused severe adverse psychological effects and sleep disturbances in about 30% of these patients. [ncbi.nlm.nih.gov]

• Aldosterone Decreased

  Aldosterone decreases glucose-stimulated insulin secretion in vivo in mice and in murine islets. Diabetologia 2011 [ PMC free article ] [ PubMed ] [ Google Scholar ] 147. [ncbi.nlm.nih.gov]

• Hepatocellular Carcinoma

  Further investigations indicated that the 5 MR antagonistic metals [ CdCl 2, Pb(NO 3 ) 2, LiCl, MnCl 2 and SnCl 2 ] antagonized aldosterone-inhibited hepatocellular carcinoma cell proliferation. [ncbi.nlm.nih.gov]

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]

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]

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]

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]

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]

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]

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]