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Liddle syndrome

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https://www.readbyqxmd.com/read/28604669/structural-and-mechanistic-basis-of-differentiated-inhibitors-of-the-acute-pancreatitis-target-kynurenine-3-monooxygenase
#1
Jonathan P Hutchinson, Paul Rowland, Mark R D Taylor, Erica M Christodoulou, Carl Haslam, Clare I Hobbs, Duncan S Holmes, Paul Homes, John Liddle, Damian J Mole, Iain Uings, Ann L Walker, Scott P Webster, Christopher G Mowat, Chun-Wa Chung
Kynurenine-3-monooxygenase (KMO) is a key FAD-dependent enzyme of tryptophan metabolism. In animal models, KMO inhibition has shown benefit in neurodegenerative diseases such as Huntington's and Alzheimer's. Most recently it has been identified as a target for acute pancreatitis multiple organ dysfunction syndrome (AP-MODS); a devastating inflammatory condition with a mortality rate in excess of 20%. Here we report and dissect the molecular mechanism of action of three classes of KMO inhibitors with differentiated binding modes and kinetics...
June 12, 2017: Nature Communications
https://www.readbyqxmd.com/read/28589074/liddle-syndrome-in-association-with-aortic-dissection
#2
Aamer Abbass, Jason D'Souza, Sameen Khalid, Fnu Asad-Ur-Rahman, Joseph Limback, Jeremy Burt, Rajesh Shah
Liddle syndrome is a rare form of autosomal dominant monogenic hypertension manifested as an early onset of resistant hypertension with either no response or suboptimal response to conventional antihypertensive therapy. If there is a delay in diagnosis, uncontrolled hypertension can lead to end organ damage. To our knowledge, aortic dissection has not been reported in association with this disease. We report a case of a dissecting aortic aneurysm occurring in association with Liddle syndrome.​.
May 4, 2017: Curēus
https://www.readbyqxmd.com/read/28586600/liddle-s-syndrome
#3
Danish Abdul Aziz, Fozia Memon, Arshalooz Rahman, Madiha Ali
Hypertension in paediatric age group is commonly secondary to a known cause. It is crucial to identify the cause of hypertension and treat it before development of any associated complications to prevent morbidity and mortality. Paediatric Hypertension is one of the important clinical finding in a child with certain clinical syndrome. We are presenting a case of a 10 month old child presenting with hypertension and hypokalaemia, after excluding all identifiable causes and her positive response to therapy, that is amiloride, along with supportive biochemical data she was diagnosed as a case of monogenic type of hypertension known as Liddle's syndrome...
October 2016: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/28545287/-liddle-syndrome-complicating-with-nonfunctional-adrenal-cortical-adenoma-a-case-report
#4
P Zhang, L Q Kong, D J Huang
No abstract text is available yet for this article.
April 24, 2017: Zhonghua Xin Xue Guan Bing za Zhi
https://www.readbyqxmd.com/read/28409346/development-and-diseases-of-the-collecting-duct-system
#5
Lihe Chen, Paul J Higgins, Wenzheng Zhang
The collecting duct of the mammalian kidney is important for the regulation of extracellular volume, osmolarity, and pH. There are two major structurally and functionally distinct cell types: principal cells and intercalated cells. The former regulates Na(+) and water homeostasis, while the latter participates in acid-base homeostasis. In vivo lineage tracing using Cre recombinase or its derivatives such as CreGFP and CreER(T2) is a powerful new technique to identify stem/progenitor cells in their native environment and to decipher the origins of the tissue that they give rise to...
2017: Results and Problems in Cell Differentiation
https://www.readbyqxmd.com/read/28396810/management-of-liddle-syndrome-in-pregnancy-a-case-report-and-literature-review
#6
Michael Awadalla, Manasi Patwardhan, Adham Alsamsam, Nashat Imran
Liddle syndrome is an autosomal dominant genetic condition that causes hypertension and hypokalemia due to a gain-of-function mutation in the SCNN1B or SCNN1G genes which code for the epithelial sodium channel in the kidney. This leads to increased sodium and water reabsorption causing hypertension. We report a case of a 27-year-old pregnant woman who was admitted for hypertension and hypokalemia and later diagnosed and treated for Liddle syndrome using amiloride. Maintaining a high suspicion of Liddle syndrome in pregnancy is essential in such cases to be able to adequately and effectively treat the hypertension...
2017: Case Reports in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28236585/the-importance-of-genetic-counseling-and-genetic-screening-a-case-report-of-a-16-year-old-boy-with-resistant-hypertension-and-severe-hypokalemia
#7
Ze-Min Kuang, Ying Wang, Jia-Jie Wang, Jing-Hua Liu, Rong Zeng, Qi Zhou, Zhen-Qiu Yu, Long Jiang
Liddle's syndrome, an autosomal dominant form of monogenic hypertension, is characterized by salt-sensitive hypertension with early penetrance, hypokalemia, metabolic alkalosis, suppression of plasma rennin activity and aldosterone secretion, and a clear-cut response to epithelial sodium channel blockers but not spironolactone therapy. Here, we describe the case of a 16-year-old boy patient with resistant hypertension (maintain 170-180/100-110 mm Hg after administration four kinds of antiypertensive drugs) and severe hypokalemia...
February 3, 2017: Journal of the American Society of Hypertension: JASH
https://www.readbyqxmd.com/read/28229899/genetic-testing-helps-to-confirm-the-diagnosis-and-initiate-appropriate-treatment-a-case-of-liddle%C3%A2-syndrome
#8
EDITORIAL
Pavel N Pichurin, Garry L Schwartz
No abstract text is available yet for this article.
January 25, 2017: Journal of the American Society of Hypertension: JASH
https://www.readbyqxmd.com/read/27900368/whole-exome-sequencing-reveals-an-inherited-r566x-mutation-of-the-epithelial-sodium-channel-%C3%AE-subunit-in-a-case-of-early-onset-phenotype-of-liddle-syndrome
#9
Linda M Polfus, Eric Boerwinkle, Richard A Gibbs, Ginger Metcalf, Donna Muzny, Narayanan Veeraraghavan, Megan Grove, Sanjay Shete, Stephanie Wallace, Dianna Milewicz, Neil Hanchard, James R Lupski, Syed Shahrukh Hashmi, Monesha Gupta-Malhotra
To comprehensively evaluate a European-American child with severe hypertension, whole-exome sequencing (WES) was performed on the child and parents, which identified causal variation of the proband's early-onset disease. The proband's hypertension was resistant to treatment, requiring a multiple drug regimen including amiloride, spironolactone, and hydrochlorothiazide. We suspected a monogenic form of hypertension because of the persistent hypokalemia with low plasma levels of renin and aldosterone. To address this, we focused on rare functional variants and indels, and performed gene-based tests incorporating linkage scores and allele frequency and filtered on deleterious functional mutations...
November 2016: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/27896928/liddle-syndrome-clinical-and-genetic-profiles
#10
Yunying Cui, Anli Tong, Jun Jiang, Fen Wang, Chunyan Li
Liddle syndrome is a rare autosomal dominant monogenic form of hypertension. The authors analyzed clinical and genetic features of 12 cases of Liddle syndrome, the largest sample size ever reported. Clinical data were studied retrospectively. The exon 13 of the β and γ subunits of the epithelial sodium channel were amplified and sequenced in the peripheral blood leukocytes of the patients. The onset age of the 12 patients was 15.5±3.3 years. Their blood pressures were poorly controlled, and serum potassium levels in most patients were <3...
May 2017: Journal of Clinical Hypertension
https://www.readbyqxmd.com/read/27864805/endocrine-hypertension-a-practical-approach
#11
REVIEW
Joseph M Pappachan, Harit N Buch
Elevated blood pressure resulting from few endocrine disorders (endocrine hypertension) accounts for a high proportion of cases of secondary hypertension. Although some features may be suggestive, many cases of endocrine hypertension remain silent until worked up for the disease. A majority of cases result from primary aldosteronism. Other conditions that can cause endocrine hypertension are: congenital adrenal hyperplasia, Liddle syndrome, pheochromocytomas, Cushing's syndrome, acromegaly, thyroid diseases, primary hyperparathyroidism and iatrogenic hormone manipulation...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27753868/poa-02-1-genetic-basis-of-blood-pressure-and-hypertension
#12
Anna F Dominiczak
Human primary or essential hypertension is a complex, polygenic trait with some 50% contribution from genes and environment. Richard Lifton and colleagues provided elegant dissection of several rare Mendelian forms of hypertension, exemplified by the glucocorticoid remediable aldosteronism and Liddle's syndrome. These discoveries illustrate that a single gene mutation can explain the entire pathogenesis of severe, early onset hypertension as well as dictating the best treatment. The dissection of the much more common polygenic hypertension has proven much more difficult...
September 2016: Journal of Hypertension
https://www.readbyqxmd.com/read/27753828/sy-03-1-genetic-basis-of-blood-pressure-and-hypertension
#13
Anna Dominiczak
Human primary or essential hypertension is a complex, polygenic trait with some 50% contribution from genes and environment. Richard Lifton and colleagues provided elegant dissection of several rare Mendelian forms of hypertension, exemplified by the glucocorticoid remediable aldosteronism and Liddle's syndrome. These discoveries illustrate that a single gene mutation can explain the entire pathogenesis of severe, early onset hypertension as well as dictating the best treatment.The dissection of the much more common polygenic hypertension has proven much more difficult...
September 2016: Journal of Hypertension
https://www.readbyqxmd.com/read/27643105/poa-02-1-genetic-basis-of-blood-pressure-and-hypertension
#14
Anna F Dominiczak
Human primary or essential hypertension is a complex, polygenic trait with some 50% contribution from genes and environment. Richard Lifton and colleagues provided elegant dissection of several rare Mendelian forms of hypertension, exemplified by the glucocorticoid remediable aldosteronism and Liddle's syndrome. These discoveries illustrate that a single gene mutation can explain the entire pathogenesis of severe, early onset hypertension as well as dictating the best treatment. The dissection of the much more common polygenic hypertension has proven much more difficult...
September 2016: Journal of Hypertension
https://www.readbyqxmd.com/read/27642881/sy-03-1-genetic-basis-of-blood-pressure-and-hypertension
#15
Anna Dominiczak
Human primary or essential hypertension is a complex, polygenic trait with some 50% contribution from genes and environment. Richard Lifton and colleagues provided elegant dissection of several rare Mendelian forms of hypertension, exemplified by the glucocorticoid remediable aldosteronism and Liddle's syndrome. These discoveries illustrate that a single gene mutation can explain the entire pathogenesis of severe, early onset hypertension as well as dictating the best treatment.The dissection of the much more common polygenic hypertension has proven much more difficult...
September 2016: Journal of Hypertension
https://www.readbyqxmd.com/read/27504374/spectrum-of-renal-and-urinary-tract-diseases-in-kashmiri-children
#16
Mohd Ashraf, Virender Kumar, Rifat Ara Bano, Khursheed Ahmed Wani, Javed Ahmed, Kaisar Ahmed
INTRODUCTION: Definite paucity of data pertaining to spectrum of renal and urinary tract diseases in our state and in various parts of India forms the basis of this study. Available data has emphasized more on specific clinical syndromes and chronic renal diseases rather than over all spectrums of renal and urinary tract diseases, that too in adult population. AIM: The present study a retrospective analysis, forms one of the basic data of paediatric nephrology and urology related disorders in our state...
June 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27403419/potential-roles-of-amiloride-sensitive-sodium-channels-in-cancer-development
#17
REVIEW
Siguang Xu, Cui Liu, Yana Ma, Hong-Long Ji, Xiumin Li
The ENaC/degenerin ion channel superfamily includes the amiloride-sensitive epithelial sodium channel (ENaC) and acid sensitive ionic channel (ASIC). ENaC is a multimeric ion channel formed by heteromultimeric membrane glycoproteins, which participate in a multitude of biological processes by mediating the transport of sodium (Na(+)) across epithelial tissues such as the kidney, lungs, bladder, and gut. Aberrant ENaC functions contribute to several human disease states including pseudohypoaldosteronism, Liddle syndrome, cystic fibrosis, and salt-sensitive hypertension...
2016: BioMed Research International
https://www.readbyqxmd.com/read/27387249/cushing-s-syndrome-due-to-ectopic-acth-secretion
#18
Łukasz Cieszyński, Monika Berendt-Obołończyk, Michał Szulc, Krzysztof Sworczak
Cushing's syndrome (CS) is defined as a constellation of clinical signs and symptoms occurring due to hypercortisolism. Cortisol excess may be endogenous or exogenous. The most common cause of CS is glucocorticoid therapy with supraphysiological (higher than in the case of substitution) doses used in various diseases (e.g. autoimmune). One possible CS cause is ectopic (extra-pituitary) ACTH secretion (EAS) by benign or malignant tumours. Since its first description in 1963, EAS aetiology has changed, i.e. as well as small cell lung cancer (SCLC), higher incidence in other malignancies has been reported...
2016: Endokrynologia Polska
https://www.readbyqxmd.com/read/27336356/bilateral-adrenal-hyperplasia-as-a-possible-mechanism-for-hyperandrogenism-in-women-with-polycystic-ovary-syndrome
#19
COMPARATIVE STUDY
Evgenia Gourgari, Maya Lodish, Meg Keil, Ninet Sinaii, Evrim Turkbey, Charalampos Lyssikatos, Maria Nesterova, Maria de la Luz Sierra, Paraskevi Xekouki, Divya Khurana, Svetlana Ten, Adrian Dobs, Constantine A Stratakis
CONTEXT: Androgen excess may be adrenal and/or ovarian in origin; we hypothesized that a subgroup of patients with polycystic ovarian syndrome (PCOS) may have some degree of abnormal adrenocortical function. OBJECTIVE: The objective of the study was to evaluate the pituitary adrenal axis with an oral low- and high-dose dexamethasone-suppression test (Liddle's test) in women with PCOS. DESIGN: This was a case-control study. SETTING: The study was conducted at the National Institutes of Health Clinical Center...
September 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27325428/liddle-syndrome-in-a-turkish-family-with-heterogeneous-phenotypes
#20
Bahar Büyükkaragöz, Aysun Caltik Yilmaz, Deniz Karcaaltincaba, Osman Ozdemir, Michael Ludwig
Liddle syndrome (LS) is a familial disease characterized by early onset hypertension (HT). Although regarded as rare, its incidence may be greater than expected because the classical findings of hypokalemic metabolic alkalosis with suppressed renin and aldosterone levels are not consistently present. Herein, we present the case of an adolescent boy and maternal relatives who were followed up with misdiagnosis of essential HT for a long duration. Clinical diagnosis of LS was confirmed on genetic analysis. Despite carrying the same mutation, the index patient and the family members manifested heterogeneous phenotypes of the disease including age at presentation, degree of HT, presence of hypokalemia and renal/cardiac complications...
August 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
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