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Mineralocorticoid


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]
  • A 38 year old woman and her first cousin, a 41 year old man, presented both with hypertension, hypokalemia, hyperaldosteronism, and low plasma renin activity in our Hospital.[ncbi.nlm.nih.gov]
  • OBJECTIVE: To present a case of concomitant secretion of cortisol, androgens, and 11-deoxycorticosterone (DOC) by an adrenocortical carcinoma and review the literature in an attempt to identify similar cases.[ncbi.nlm.nih.gov]
  • A 3 year-old girl presented CSW at day 4, after resection of craniopharyngioma and hypophysectomy.[ncbi.nlm.nih.gov]
  • Abstract The present report describes two sibs--born from consanguineous parents--presenting with severe salt wasting.[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, hypertension, or diabetic nephropathy.[ncbi.nlm.nih.gov]
  • heart failure (CHF) and reduced left ventricular (LV) ejection fraction.[ncbi.nlm.nih.gov]
  • Rationale for the use of aldosterone antagonists in congestive heart failure. Drugs. 2002; 62 (5):723–31. [ PubMed ] [ Google Scholar ] 42. Bauersachs J, Heck M, Fraccarollo D et al.[ncbi.nlm.nih.gov]
Rigor
  • Therefore, non-MRA-related rises in potassium levels might be underestimated and should be rigorously explored before cessation of the evidence-based therapy with MRAs. Copyright 2017 Elsevier Inc. All rights reserved.[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]
  • Methods: Seventeen Phase III studies conducted in patients with mild-to-moderate hypertension in the Eplerenone Hypertension Clinical Program were reviewed; eleven met the selection criteria.[ncbi.nlm.nih.gov]
  • Abstract Mineralocorticoid-receptor antagonists (MRAs) have proven to be effective in some types of hypertension, especially in resistant hypertension (RHTN).[ncbi.nlm.nih.gov]
  • These findings may determine the full inactivation of this enzyme, explaining the biochemical profile and the early onset of hypertension seen in this patient.[ncbi.nlm.nih.gov]
  • Here, we describe two siblings, 1 and 2 yr old, who were diagnosed with hypokalemic hypertension and low plasma aldosterone and renin levels, indicating mineralocorticoid hypertension.[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]
Retinal Pigmentation
  • The complex pathogenesis is still not fully understood, but is thought to be multifactorial and involves exogenous and endogenous factors affecting the choroid and retinal pigment epithelium.[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]

Workup

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

  • Abstract The brand new 2016 ESC guidelines for the treatment of acute and chronic heart failure continue to give a prominent place to mineralocorticoid receptor antagonists in the treatment of chronic heart failure with reduced ejection fraction (HFrEF[ncbi.nlm.nih.gov]
  • The treatment effect was 0.71 (0.47 to 0.96; p Georg Thieme Verlag KG Stuttgart · New York.[ncbi.nlm.nih.gov]
  • In patients 75 years with HEFREF, the effect of MRA treatment on overall mortality is uncertain. Further study is required in subgroups of elderly patients with both HEFREF and HEFPEF.[ncbi.nlm.nih.gov]
  • Patients of the original study cohort (n   4953) were categorized according to in-hospital MRA treatment status as MRA-treated (n   1439) and untreated (n   3514) subjects.[ncbi.nlm.nih.gov]
  • After six weeks of treatment with eplerenone (25 mg/day) total resorption of subretinal fluid with an increase in VA to 0.8 was observed.[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]

Etiology

  • 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]
  • Importance: Chronic central serous chorioretinopathy (cCSC) is a chorioretinal disease with unknown disease etiology.[ncbi.nlm.nih.gov]
  • […] 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

  • 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]
  • 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]
  • The Parathyroid Epidemiology and Audit Research Study (PEARS) Clin Endocrinol (Oxf) 2010; 73 :30–34. [ PubMed ] [ Google Scholar ] 57. Sambrook PN, Chen JS, March LM, et al.[ncbi.nlm.nih.gov]
  • The Parathyroid Epidemiology and Audit Research Study (PEARS). Clin Endocrinol (Oxf). 2010;73:30–4. Google Scholar 57. Sambrook PN, Chen JS, March LM, et al.[doi.org]
Sex distribution
Age distribution

Pathophysiology

  • In this review, we show the relevance of aldosterone in RHTN, as well as some clinical characteristics of this condition and the main concepts involving its pathophysiology and cardiovascular damage.[ncbi.nlm.nih.gov]
  • 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]
  • Tissue-specific conditional models of MR expression in myeloid cells, endothelial cells, smooth muscle cells and cardiomyocytes have been very informative and have firmly demonstrated a critical role of MR as a key pathophysiologic variable in cardiac[ncbi.nlm.nih.gov]
  • Pathophysiological MR activation contributes to a plethora of deleterious molecular mechanisms in the development of cardiorenal diseases like chronic kidney disease (CKD) and heart failure (HF).[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]

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]
  • Thus, finerenone appears to provide favorable vascular effects through restoring vascular integrity and preventing adverse vascular remodeling.[ncbi.nlm.nih.gov]
  • In the prevention of HF hospitalization and death, a class I, level of recommendation A, is given to MRAs for patients with HFrEF, who remain symptomatic despite treatment with an ACE-inhibitor and a beta-blocker and have an LVEF below 35 %.[ncbi.nlm.nih.gov]
  • Abstract In the kidney, the 11beta-hydroxysteroid dehydrogenase type 2 enzyme (11betaHSD2) inactivates glucocorticoids to their inactive ketoforms and thus prevents endogenous glucocorticoids from occupying the nonselective mineralocorticoid receptor[ncbi.nlm.nih.gov]
  • Importantly, this shift was prevented by an acute administration of the MR-antagonist spironolactone.[ncbi.nlm.nih.gov]

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