Read by QxMD icon Read

Familial hyperaldosteronism

shared collection
11 papers 0 to 25 followers
By P O Pediatrics, Nephrology
Paolo Mulatero, Philipp Tauber, Maria-Christina Zennaro, Silvia Monticone, Katharina Lang, Felix Beuschlein, Evelyn Fischer, Davide Tizzani, Anna Pallauf, Andrea Viola, Laurence Amar, Tracy Ann Williams, Tim M Strom, Elisabeth Graf, Sascha Bandulik, David Penton, Pierre-François Plouin, Richard Warth, Bruno Allolio, Xavier Jeunemaitre, Franco Veglio, Martin Reincke
Primary aldosteronism is the most frequent cause of endocrine hypertension. Three forms of familial hyperaldosteronism (FH) have been described, named FH-I to -III. Recently, a mutation of KCNJ5 has been shown to be associated with FH-III, whereas the cause of FH-II is still unknown. In this study we searched for mutations in KCNJ5 in 46 patients from 21 families with FH, in which FH-I was excluded. We identified a new germline G151E mutation in 2 primary aldosteronism-affected subjects from an Italian family and 3 somatic mutations in aldosterone-producing adenomas, T158A described previously as a germline mutation associated with FH-III, and G151R and L168R both described as somatic mutations in aldosterone-producing adenoma...
February 2012: Hypertension
Alessandro Mussa, Roberta Camilla, Silvia Monticone, Francesco Porta, Daniele Tessaris, Francesca Verna, Paolo Mulatero, Silvia Einaudi
Familial hyperaldosteronism (FH) encompasses 3 types of autosomal dominant hyperaldosteronisms leading to inheritable hypertension. FH type II (FH-II), undistinguishable from sporadic hyperaldosteronism, represents the most frequent cause of inheritable hypertension and is believed to only manifest in adults. FH-III is a severe variety of PA resistant to pharmacotherapy and recently demonstrated to be caused by mutations in the gene encoding the potassium channel KCNJ5. In this report, we describe a FH pediatric patient, remarkable both for age at onset and unusual presentation: a two-years old girl with polyuric-polydipsic syndrome and severe hypertension, successfully treated with canrenone and amiloride...
2012: Endocrine Journal
Michael Stowasser, Richard Douglas Gordon
The growing realisation since the early 1990s that primary aldosteronism (PA) is a much more common cause of hypertension than previously thought, and that aldosterone excess has adverse effects that are at least partly independent of blood pressure, has been the main driving force for a renaissance in clinical and research interest in PA. This has generated a wealth of new knowledge regarding (1) PA's high prevalence, (2) the extent of non-BP dependent cardiovascular and renal organ damage and morbidity and reduced quality of life associated with PA, all of which appear to be at least partly ameliorated by specific treatment (especially surgical) directed against excessive aldosterone action, (3) the diversity of adrenal histopathology associated with PA and the need to subdivide patients based on glucocorticoid remediability (by genetic testing for the hybrid gene mutation causing familial hyperaldosteronism type I, FH-I) and lateralisation on adrenal venous sampling in order to ensure optimal treatment, (4) the value of elucidating genetic bases for PA in terms of improving detection, understanding of pathogenesis and treatment, as illustrated by the determination of the genetic basis of FH-I, and (5) the genetic basis of more common forms including aldosterone-producing adenoma...
June 2013: Heart, Lung & Circulation
Maria-Christina Zennaro, Amanda Jane Rickard, Sheerazed Boulkroun
Aldosterone plays a major role in the regulation of sodium and potassium homeostasis and blood pressure. More recently, aldosterone has emerged as a key hormone mediating end organ damage. In extreme cases, dysregulated aldosterone production leads to primary aldosteronism (PA), the most common form of secondary hypertension. However, even within the physiological range, high levels of aldosterone are associated with an increased risk of developing hypertension over time. PA represents the most common and curable form of hypertension, with a prevalence that increases with the severity of hypertension...
July 2013: European Journal of Endocrinology
Silvia Monticone, Namita G Hattangady, David Penton, Carlos M Isales, Michael A Edwards, Tracy A Williams, Christina Sterner, Richard Warth, Paolo Mulatero, William E Rainey
CONTEXT: Primary aldosteronism is a heterogeneous group of disorders comprising both sporadic and familial forms. Mutations in the KCNJ5 gene, which encodes the inward rectifier K(+) channel 4 (G protein-activated inward rectifier K(+) channel 4, Kir3.4), cause familial hyperaldosteronism type III (FH-III) and are involved in the pathogenesis of sporadic aldosterone-producing adenomas. OBJECTIVE: The objective of the study was to characterize the effects of a newly described KCNJ5 mutation in vitro...
November 2013: Journal of Clinical Endocrinology and Metabolism
Celso E Gomez-Sanchez, Kenji Oki
Primary aldosteronism is the most common form of secondary hypertension and has significant cardiovascular consequences. Aldosterone-producing adenomas (APAs) are responsible for half the cases of primary aldosteronism, and about half have mutations of the G protein-activated inward rectifying potassium channel Kir3.4. Under basal conditions, the adrenal zona glomerulosa cells are hyperpolarized with negative resting potentials determined by membrane permeability to K(+) mediated through various K(+) channels, including the leak K(+) channels TASK-1, TASK-3, and Twik-Related Potassium Channel 1, and G protein inward rectifying potassium channel Kir3...
January 2014: Endocrinology
Andreas G Moraitis, William E Rainey, Richard J Auchus
Primary aldosteronism (PA) is the most common form of secondary hypertension, found in about 5% of all hypertension cases, and up to 20% of resistant hypertension cases. The most common forms of PA are an aldosterone-producing adenoma and idiopathic (bilateral) hyperaldosteronism. Rare genetic forms of PA exist and, until recently, the only condition with a known genetic mechanism was familial hyperaldosteronism type 1, also known as glucocorticoid-remediable aldosteronism (FHA1/GRA). FHA type 3 has now been shown to derive from germline mutations in the KCNJ5 gene, which encodes a potassium channel found on the adrenal cells...
2013: Application of Clinical Genetics
Abdallah Al-Salameh, Régis Cohen, Rachel Desailloud
Primary aldosteronism is the most common cause of secondary hypertension. The syndrome accounts for 10% of all cases of hypertension and is primarily caused by bilateral adrenal hyperplasia or aldosterone-producing adenoma. Over the last few years, the use of exome sequencing has significantly improved our understanding of this syndrome. Somatic mutations in the KCNJ5, ATP1A1, ATP2B3 or CACNA1D genes are present in more than half of all cases of aldosterone-producing adenoma (~40%, ~6%, ~1% and ~8%, respectively)...
2014: Application of Clinical Genetics
Maria-Christina Zennaro, Sheerazed Boulkroun, Fabio Fernandes-Rosa
Primary aldosteronism (PA) is the most common and curable form of secondary hypertension. It is caused in the majority of cases by either unilateral aldosterone overproduction due to an aldosterone-producing adenoma (APA) or by bilateral adrenal hyperplasia. Recent advances in genome technology have allowed researchers to unravel part of the genetic abnormalities underlying the development of APA and familial hyperaldosteronism. Recurrent somatic mutations in genes coding for ion channels (KCNJ5 and CACNA1D) and ATPases (ATP1A1 and ATP2B3) regulating intracellular ionic homeostasis and cell membrane potential have been identified in APA...
February 2015: Journal of Endocrinology
John W Funder
Primary aldosteronism (PA) accounts for ∼10% of hypertension, which is commonly caused by an aldosterone-producing adenoma (APA) or bilateral adrenal hyperplasia. Germline mutations producing PA are considered rare and termed familial hyperaldosteronism (FH) [1, 2, 3]. Since early 2011, a series of somatic mutations confined to the adrenal cortex has been reported, accounting for about half of APA. These mutations are in genes encoding components of the Kir 3.4 (GIRK4) potassium channel (KCNJ5), sodium/potassium and calcium ATPases (ATP1A1 and ATP2B3) and a voltage-dependent C-type calcium channel (CACNA1D)...
2014: Frontiers of Hormone Research
H E Korah, U I Scholl
Familial forms of primary aldosteronism have been suggested to account for up to 6% of cases in referral centers. For many years, the genetics of familial hyperaldosteronism remained unknown, with the notable exception of glucocorticoid-remediable aldosteronism, due to unequal crossing over and formation of a chimeric 11β-hydroxylase/aldosterone synthase gene. Over the past 5 years, mutations in 3 additional genes have been shown to cause familial forms of primary aldosteronism. Gain-of-function heterozygous germline mutations in KCNJ5, which encodes an inward rectifier potassium channel, cause autosomal dominant syndromes of PA and hypertension with or without adrenal hyperplasia...
December 2015: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"