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"Familial hyperaldosteronism"

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https://www.readbyqxmd.com/read/29432258/overview-of-aldosterone-related-genetic-syndromes-and-recent-advances
#1
Maria-Christina Zennaro, Fabio L Fernandes-Rosa, Sheerazed Boulkroun
PURPOSE OF REVIEW: Primary aldosteronism is the most common form of secondary hypertension. Early diagnosis and treatment are key to cure of hypertension and prevention of cardiovascular complications. Recent genetic discoveries have improved our understanding on the pathophysiology of aldosterone production and triggered the development of new diagnostic procedures and targeted treatments for primary aldosteronism. RECENT FINDINGS: Different inherited genetic abnormalities distinguish specific forms of familial hyperaldosteronism...
February 8, 2018: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/29403011/clcn2-chloride-channel-mutations-in-familial-hyperaldosteronism-type-ii
#2
Ute I Scholl, Gabriel Stölting, Julia Schewe, Anne Thiel, Hua Tan, Carol Nelson-Williams, Alfred A Vichot, Sheng Chih Jin, Erin Loring, Verena Untiet, Taekyeong Yoo, Jungmin Choi, Shengxin Xu, Aihua Wu, Marieluise Kirchner, Philipp Mertins, Lars C Rump, Ali Mirza Onder, Cory Gamble, Daniel McKenney, Robert W Lash, Deborah P Jones, Gary Chune, Priscila Gagliardi, Murim Choi, Richard Gordon, Michael Stowasser, Christoph Fahlke, Richard P Lifton
Primary aldosteronism, a common cause of severe hypertension 1 , features constitutive production of the adrenal steroid aldosterone. We analyzed a multiplex family with familial hyperaldosteronism type II (FH-II) 2 and 80 additional probands with unsolved early-onset primary aldosteronism. Eight probands had novel heterozygous variants in CLCN2, including two de novo mutations and four independent occurrences of a mutation encoding an identical p.Arg172Gln substitution; all relatives with early-onset primary aldosteronism carried the CLCN2 variant found in the proband...
February 5, 2018: Nature Genetics
https://www.readbyqxmd.com/read/29348113/genetics-in-endocrinology-the-expanding-genetic-horizon-of-primary-aldosteronism
#3
Silvia Monticone, Fabrizio Buffolo, Martina Tetti, Franco Veglio, Barbara Pasini, Paolo Mulatero
Aldosterone is the main mineralocorticoid hormone in humans and plays a key role in maintaining water and electrolyte homeostasis. Primary aldosteronism (PA), characterized by autonomous aldosterone overproduction by the adrenal glands, affects 6% of the general hypertensive population and can be either sporadic or familial. Aldosterone producing adenoma (APA) and bilateral adrenal hyperplasia (BAH) are the two most frequent subtypes of sporadic PA, and 4 forms of familial hyperaldosteronism (FH-I to FH-IV) have been identified...
January 18, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29065434/unanswered-questions-in-the-genetic-basis-of-primary-aldosteronism
#4
Ute I Scholl
Over the past six years, the genetic basis of a significant fraction of primary aldosteronism (PA) cases has been solved. Breakthrough discoveries include the role of somatic variants in the KCNJ5, CACNA1D, ATP1A1, and ATP2B3 genes as causes of aldosterone-producing adenomas (APAs), and the recognition of three novel hyperaldosteronism syndromes with germline variants in the KCNJ5, CACNA1D, and CACNA1H genes. The description of somatic variants in CACNA1D and ATP1A1 in aldosterone-producing cell clusters (APCCs) suggests that these clusters are precursors of some aldosterone-producing adenomas...
October 24, 2017: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/29022889/armc5-is-not-implicated-in-familial-hyperaldosteronism-type-ii-fh-ii
#5
S M C De Sousa, M Stowasser, J Feng, A W Schreiber, P Wang, C N Hahn, R D Gordon, D J Torpy, H S Scott, L Gagliardi
No abstract text is available yet for this article.
December 2017: Journal of Human Hypertension
https://www.readbyqxmd.com/read/28904009/diagnosis-of-endocrine-disease-18-oxocortisol-and-18-hydroxycortisol-is-there-clinical-utility-of-these-steroids
#6
REVIEW
Jacques W M Lenders, Tracy Ann Williams, Martin Reincke, Celso E Gomez-Sanchez
Since the early 1980s 18-hydroxycortisol and 18-oxocortisol have attracted attention when it was shown that the urinary excretion of these hybrid steroids was increased in primary aldosteronism. The development and more widespread use of specific assays has improved the understanding of their role in the (patho)physiology of adrenal disorders. The adrenal site of synthesis is not fully understood although it is clear that for the synthesis of 18-hydroxycortisol and 18-oxocortisol the action of both aldosterone synthase (zona glomerulosa) and 17α-hydroxylase (zona fasciculata) is required with cortisol as main substrate...
January 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28447626/familial-hyperaldosteronism-type-iii
#7
REVIEW
S Monticone, M Tetti, J Burrello, F Buffolo, R De Giovanni, F Veglio, T A Williams, P Mulatero
Primary aldosteronism is the most common form of endocrine hypertension. This disorder comprises both sporadic and familial forms. Four familial forms of primary aldosteronism (FH-I to FH-IV) have been described. FH-III is caused by germline mutations in KCNJ5, encoding the potassium channel Kir3.4 (also called GIRK4). These mutations alter the selectivity filter of the channel and lead to abnormal ion currents with loss of potassium selectivity, sodium influx and consequent increased intracellular calcium that causes excessive aldosterone biosynthesis...
December 2017: Journal of Human Hypertension
https://www.readbyqxmd.com/read/27923252/evaluation-of-a-recently-established-test-for-familial-hyperaldosteronism-type-1
#8
LETTER
T Dringenberg, M Sorokina, M Ehlers, G Dekomien, M Haase, E Schulze, M Quinkler, L C Rump, M Schott, H S Willenberg
No abstract text is available yet for this article.
December 2016: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/27793677/disordered-zonal-and-cellular-cyp11b2-enzyme-expression-in-familial-hyperaldosteronism-type-3
#9
Celso E Gomez-Sanchez, Xin Qi, Elise P Gomez-Sanchez, Hironobu Sasano, Martin O Bohlen, Max Wisgerhof
Three forms of familial primary aldosteronism have been recognized. Familial Hyperaldosteronism type 1 (FH1) or dexamethasone suppressible hyperaldosteronism, FH2, the most common form of as yet unknown cause(s), and FH3. FH3 is due to activating mutations of the potassium channel gene KCNJ5 that increase constitutive and angiotensin II-induced aldosterone synthesis. In this study we examined the cellular distribution of CYP11B2, CYP11B1, CYP17A1 and KCNJ5 in adrenals from two FH3 siblings using immunohistochemistry and immunofluorescence and obtained unexpected results...
January 5, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/27753830/sy-03-3-overview-of-somatic-mutations-and-epigenetic-regulation-of-aldosterone-producing-adenoma-apa
#10
Satoshi Umemura
Primary aldosteronism (PA) is a heterogeneous group of disorders including both sporadic and familial forms (familial hyperaldosteronism type I, II and III). PA is the most frequent endocrine cause of secondary hypertension and associated with a higher rate of cardiovascular complications, compared with essential hypertension.Here I review the recent progress in understanding of the genetic and molecular mechanisms leading to autonomous aldosterone production in PA.Systematic screening detects primary aldosteronism in 5 to 10% of all patients with hypertension and in approximately 20% of patients with resistant hypertension...
September 2016: Journal of Hypertension
https://www.readbyqxmd.com/read/27729216/cacna1h-mutations-are-associated-with-different-forms-of-primary-aldosteronism
#11
Georgios Daniil, Fabio L Fernandes-Rosa, Jean Chemin, Iulia Blesneac, Jacques Beltrand, Michel Polak, Xavier Jeunemaitre, Sheerazed Boulkroun, Laurence Amar, Tim M Strom, Philippe Lory, Maria-Christina Zennaro
Primary aldosteronism (PA) is the most common form of secondary hypertension. Mutations in KCNJ5, ATP1A1, ATP2B3 and CACNA1D are found in aldosterone producing adenoma (APA) and familial hyperaldosteronism (FH). A recurrent mutation in CACNA1H (coding for Cav3.2) was identified in a familial form of early onset PA. Here we performed whole exome sequencing (WES) in patients with different types of PA to identify new susceptibility genes. Four different heterozygous germline CACNA1H variants were identified. A de novo Cav3...
November 2016: EBioMedicine
https://www.readbyqxmd.com/read/27642883/sy-03-3-overview-of-somatic-mutations-and-epigenetic-regulation-of-aldosterone-producing-adenoma-apa
#12
Satoshi Umemura
Primary aldosteronism (PA) is a heterogeneous group of disorders including both sporadic and familial forms (familial hyperaldosteronism type I, II and III). PA is the most frequent endocrine cause of secondary hypertension and associated with a higher rate of cardiovascular complications, compared with essential hypertension.Here I review the recent progress in understanding of the genetic and molecular mechanisms leading to autonomous aldosterone production in PA.Systematic screening detects primary aldosteronism in 5 to 10% of all patients with hypertension and in approximately 20% of patients with resistant hypertension...
September 2016: Journal of Hypertension
https://www.readbyqxmd.com/read/27508685/-op-lb01-12-cacna1h-mutations-are-associated-with-young-onset-and-familial-forms-of-primary-aldosteronism
#13
G Daniil, F L Fernandes-Rosa, J Chemin, X Jeunemaitre, M Polak, S Boulkroun, L Amar, T M Strom, P Lory, M C Zennaro
OBJECTIVE: Primary aldosteronism (PA) is the most common form of secondary hypertension. Mutations in KCNJ5, ATP1A1, ATP2B3 and CACNA1D are found in aldosterone producing adenomas (APA) and familial hyperaldosteronism (FH). Recently, a recurrent germline mutation in CACNA1H (encoding the T-type voltage-dependent calcium channel Cav3.2) was identified in a new familial form of early onset hypertension and PA. DESIGN AND METHOD: To identify new genes responsible for PA, we have performed whole exome sequencing in 23 patients with APA, 10 patients with FH and in two trios with the proband presenting early onset PA...
September 2016: Journal of Hypertension
https://www.readbyqxmd.com/read/27485459/genetics-of-primary-hyperaldosteronism
#14
REVIEW
Ravi Kumar Dutta, Peter Söderkvist, Oliver Gimm
Hypertension is a common medical condition and affects approximately 20% of the population in developed countries. Primary aldosteronism is the most common form of secondary hypertension and affects 8-13% of patients with hypertension. The two most common causes of primary aldosteronism are aldosterone-producing adenoma and bilateral adrenal hyperplasia. Familial hyperaldosteronism types I, II and III are the known genetic syndromes, in which both adrenal glands produce excessive amounts of aldosterone. However, only a minority of patients with primary aldosteronism have one of these syndromes...
October 2016: Endocrine-related Cancer
https://www.readbyqxmd.com/read/27403928/a-novel-phenotype-of-familial-hyperaldosteronism-type-iii-concurrence-of-aldosteronism-and-cushing-s-syndrome
#15
Anli Tong, Guanghua Liu, Fen Wang, Jun Jiang, Zhaoli Yan, Dianxi Zhang, Yinsheng Zhang, Jun Cai
CONTEXT: To date, all the familial hyperaldosteronism type III (FH-III) patients reported presenting with typical primary aldosteronism (PA), without showing other adrenal hormone abnormalities. OBJECTIVE: This study characterized a novel phenotype of FH-III and explored the possible pathogenesis. PATIENTS AND METHODS: A male patient presented with severe hypertension and hypokalemia at the age of 2 years and developed Cushing's syndrome at 20 years...
November 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27315758/sfe-sfhta-afce-consensus-on-primary-aldosteronism-part-5-genetic-diagnosis-of-primary-aldosteronism
#16
Maria-Christina Zennaro, Xavier Jeunemaitre
While the majority of cases of primary aldosteronism (PA) are sporadic, four forms of autosomal-dominant inheritance have been described: familial hyperaldosteronism (FH) types I to IV. FH-I, also called glucocorticoid-remediable aldosteronism, is characterized by early and severe hypertension, usually before the age of 20 years. It is due to the formation of a chimeric gene between the adjacent CYP11B2 and CYP11B1 genes (coding for aldosterone synthase and 11β-hydroxylase, respectively). FH-I is often associated with family history of stroke before 40years of age...
July 2016: Annales D'endocrinologie
https://www.readbyqxmd.com/read/27293068/functional-characterization-of-two-novel-germline-mutations-of-the-kcnj5-gene-in-hypertensive-patients-without-primary-aldosteronism-but-with-acth-dependent-aldosterone-hypersecretion
#17
Amalia Sertedaki, Athina Markou, Dimitrios Vlachakis, Sophia Kossida, Emilie Campanac, Dax A Hoffman, Maria De La Luz Sierra, Paraskevi Xekouki, Constantine A Stratakis, Gregory Kaltsas, George P Piaditis, George P Chrousos, Evangelia Charmandari
BACKGROUND: Germline mutations of the KCNJ5 gene encoding Kir3·4, a member of the inwardly rectifying K(+) channel, have been identified in 'normal' adrenal glands, patients with familial hyperaldosteronism (FH) type III, aldosterone-producing adenomas (APAs) and sporadic cases of primary aldosteronism (PA). OBJECTIVE: To present two novel KCNJ5 gene mutations in hypertensive patients without PA, but with Adrenocorticotropic hormone (ACTH)-dependent aldosterone hypersecretion...
December 2016: Clinical Endocrinology
https://www.readbyqxmd.com/read/27219889/recent-developments-in-primary-aldosteronism
#18
REVIEW
E Asbach, T A Williams, M Reincke
Primary aldosteronism (PA) is the most frequent endocrine cause of secondary arterial hypertension. Sporadic forms of PA caused mainly by an aldosterone producing adenoma (APA) or idiopathic adrenal hyperplasia (IAH) predominate; in contrast, familial forms (familial hyperaldosteronism types I, II and III) affect only a minor proportion of PA patients. Patient based registries and biobanks, international networks and next generation sequencing technologies have emerged over recent years. Somatic hot-spot mutations in the potassium channel GIRK4 (encoded by KCNJ5), in ATPases and a L-type voltage-gated calcium-channel correlate with the autonomous aldosterone production in approximately half of all APAs...
June 2016: Experimental and Clinical Endocrinology & Diabetes
https://www.readbyqxmd.com/read/27099398/mutated-kcnj5-activates-the-acute-and-chronic-regulatory-steps-in-aldosterone-production
#19
Namita G Hattangady, Shigehiro Karashima, Lucy Yuan, Daniela Ponce-Balbuena, José Jalife, Celso E Gomez-Sanchez, Richard J Auchus, William E Rainey, Tobias Else
Somatic and germline mutations in the inward-rectifying K(+) channel (KCNJ5) are a common cause of primary aldosteronism (PA) in aldosterone-producing adenoma and familial hyperaldosteronism type III, respectively. Dysregulation of adrenal cell calcium signaling represents one mechanism for mutated KCNJ5 stimulation of aldosterone synthase (CYP11B2) expression and aldosterone production. However, the mechanisms stimulating acute and chronic production of aldosterone by mutant KCNJ5 have not been fully characterized...
July 2016: Journal of Molecular Endocrinology
https://www.readbyqxmd.com/read/27036860/sfe-sfhta-afce-consensus-on-primary-aldosteronism-part-4-subtype-diagnosis
#20
Stéphane Bardet, Bernard Chamontin, Claire Douillard, Jean-Yves Pagny, Anne Hernigou, Francis Joffre, Pierre-François Plouin, Olivier Steichen
To establish the cause of primary aldosteronism (PA), it is essential to distinguish unilateral from bilateral adrenal aldosterone secretion, as adrenalectomy improves aldosterone secretion and controls hypertension and hypokalemia only in the former. Except in the rare cases of type 1 or 3 familial hyperaldosteronism, which can be diagnosed genetically and are not candidates for surgery, lateralized aldosterone secretion is diagnosed on adrenal CT or MRI and adrenal venous sampling. Postural stimulation tests and (131)I-norcholesterol scintigraphy have poor diagnostic value and (11)C-metomidate PET is not yet available...
July 2016: Annales D'endocrinologie
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