Presentation
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]
Entire Body System
- Congestive Heart Failure
heart failure (CHF) and reduced left ventricular (LV) ejection fraction. [ncbi.nlm.nih.gov]
[…] in outpatients with acute decompensated heart failure (ADHF). [clinicaltrials.gov]
Both agents have been shown to treat hypertension effectively and to improve morbidity and mortality in patients with advanced congestive heart failure (CHF). [retinalphysician.com]
- 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]
Gastrointestinal
- 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]
Cardiovascular
- 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]
Skin
- 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]
Psychiatrical
- 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]
Workup
Biopsy
- 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]
Treatment
Eplerenone treatment alone decreased a number of important muscle-specific genes. [ncbi.nlm.nih.gov]
Prognosis
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]
Etiology
[…] consistently abolish the effects of stress level cortisol on Na+ retention and hypertension in acute studies in normal humans, suggesting the existence of an additional glucocorticoid receptor. (3) Enhanced glucocorticoid 6 beta-hydroxylation could play an etiologic [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]
Epidemiology
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]
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]
Pathophysiology
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]
Observations Neurohormonal activation, including aldosteronism, in HF and RHT, has provided the pathophysiologic basis for the inclusion of MRA in the overall management of these disorders and the respective survival benefit and control of blood pressure [jamanetwork.com]
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]
Prevention
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]