keyword
MENU ▼
Read by QxMD icon Read
search

"Familial hyperaldosteronism"

keyword
https://www.readbyqxmd.com/read/27793677/disordered-zonal-and-cellular-cyp11b2-enzyme-expression-in-familial-hyperaldosteronism-type-3
#1
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
#2
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
#3
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...
October 4, 2016: EBioMedicine
https://www.readbyqxmd.com/read/27642883/sy-03-3-overview-of-somatic-mutations-and-epigenetic-regulation-of-aldosterone-producing-adenoma-apa
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/27013018/genetic-disorders-in-primary-aldosteronism-familial-and-somatic
#13
John W Funder
Familial hyperaldosteronism has been with us for 50 years, and somatic mutations responsible for aldosterone producing adenomas for five. This brief review covers advancement in each of these genetic bases of primary aldosteronism over these very different time scales, focusing on diagnosis, management and unanswered questions. Given the increasing clinical recognition of primary aldosteronism as public health issue, its heightened risk profile and the availability of targeted surgical/medical treatment, many of the current questions posed may be answered over the next five years...
March 21, 2016: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/26824982/prospective-validation-of-an-automated-chemiluminescence-based-assay-of-renin-and-aldosterone-for-the-work-up-of-arterial-hypertension
#14
Gian Paolo Rossi, Giulio Ceolotto, Giacomo Rossitto, Teresa Maria Seccia, Giuseppe Maiolino, Chiara Berton, Daniela Basso, Mario Plebani
BACKGROUND: The availability of simple and accurate assays of plasma active renin (DRC) and aldosterone concentration (PAC) can improve the detection of secondary forms of arterial hypertension. Thus, we investigated the performance of an automated chemiluminescent assay for DRC and PAC in referred hypertensive patients. METHODS: We prospectively recruited 260 consecutive hypertensive patients referred to an ESH Center for Hypertension. After exclusion of six protocol violations, 254 patients were analyzed: 67...
September 1, 2016: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/26610199/bilateral-idiopathic-adrenal-hyperplasia-genetics-and-beyond
#15
REVIEW
M-C Zennaro, F Fernandes-Rosa, S Boulkroun, X Jeunemaitre
Bilateral adrenal hyperplasia currently accounts for up to 2 thirds of cases of primary aldosteronism. As such, it represents a major opportunity for targeted medical management as opposed to unilateral surgically correctable forms of the disease. Although the majority of cases of primary aldosteronism are sporadic, bilateral adrenal hyperplasia may occur in the context of familial hyperaldosteronism where it is associated with specific germline mutations. Over the past 5 years, impressive progress has been made in our understanding of the genetic basis underlying primary aldosteronism, allowing us to identify and characterize new familial forms of the disease and to understand the mechanisms involved in the formation of aldosterone producing adenoma...
December 2015: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/26445452/an-update-on-familial-hyperaldosteronism
#16
REVIEW
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
https://www.readbyqxmd.com/read/26407873/hyperplasia-in-glands-with-hormone-excess
#17
REVIEW
Stephen J Marx
Five syndromes share predominantly hyperplastic glands with a primary excess of hormones: neonatal severe primary hyperparathyroidism, from homozygous mutated CASR, begins severely in utero; congenital non-autoimmune thyrotoxicosis, from mutated TSHR, varies from severe with fetal onset to mild with adult onset; familial male-limited precocious puberty, from mutated LHR, expresses testosterone oversecretion in young boys; hereditary ovarian hyperstimulation syndrome, from mutated FSHR, expresses symptomatic systemic vascular permeabilities during pregnancy; and familial hyperaldosteronism type IIIA, from mutated KCNJ5, presents in young children with hypertension and hypokalemia...
January 2016: Endocrine-related Cancer
https://www.readbyqxmd.com/read/26102935/6c-03-a-case-of-severe-hyperaldosteronism-caused-by-a-de-novo-kcnj5-mutation
#18
S Monticone, S Bandulik, J Stindl, M Zilbermint, I Dedov, M Tetti, M Allgaeuer, C C R Lee, P Mulatero, C A Stratakis, T A Williams, A Tiulpakov
OBJECTIVE: Familial hyperaldosteronism type III (FH-III) is a rare autosomal dominant and clinically heterogeneous condition, that can display mild as well as severe phenotypes. Point mutations in the KCNJ5 gene, affecting the ion selectivity of the inward rectifier K+ channel 4 (Kir3.4), represent the molecular basis of FH-III. So far, five germline mu- tations in the KCNJ5 gene have been identified and functionally characterized in patients with FH-III. Objective of the present study was to characterized the effect of a de novo KCNJ5 germline substitution in vitro...
June 2015: Journal of Hypertension
https://www.readbyqxmd.com/read/25667376/genetics-of-primary-aldosteronism
#19
REVIEW
Anand Vaidya, Amir H Hamrahian, Richard J Auchus
OBJECTIVE: The American Association of Clinical Endocrinologists Adrenal Scientific Committee has developed a series of articles to update members on the genetics of adrenal diseases. METHODS: Case presentation, discussion of literature, table, and bullet point conclusions. RESULTS: Primary aldosteronism (PA) is the most common form of secondary hypertension. Early detection, surveillance, and treatment of PA may mitigate future cardiovascular risk...
April 2015: Endocrine Practice
https://www.readbyqxmd.com/read/25555247/the-molecular-basis-of-primary-aldosteronism-from-chimeric-gene-to-channelopathy
#20
REVIEW
Livia Lenzini, Gian Paolo Rossi
Primary aldosteronism (PA) is the most common endocrine cause of high blood pressure. Only a minority of the PA cases are familial and due to known (CYP11B2/CYP11B1 chimeric gene or mutations in the KCNJ5 gene) or unknown causes. In the most common sporadic cases the mechanisms by which the excess aldosterone production persists in spite of high blood pressure, sodium retention, suppression of the renin angiotensin system and low potassium levels, all factors that by themselves would be expected to shut off aldosterone production, were a puzzle for decades...
April 2015: Current Opinion in Pharmacology
keyword
keyword
80280
1
2
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"