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Liddle syndrome

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https://www.readbyqxmd.com/read/28915228/analysis-of-the-genes-involved-in-mendelian-forms-of-low-renin-hypertension-in-chinese-early-onset-hypertensive-patients
#1
Kai Liu, Fang Qin, Xiaolu Sun, Yang Zhang, Jizheng Wang, Yajie Wu, Wenjun Ma, Wei Wang, Xueyi Wu, Ying Qin, Huimin Zhang, Xianliang Zhou, Haiying Wu, Rutai Hui, Yubao Zou, Xiongjing Jiang, Lei Song
BACKGROUND: The study aimed to analyze genes involved in Mendelian forms of low-renin hypertension in Chinese early-onset hypertensive patients. METHODS: A panel of nine genes, namely SCNN1B, SCNN1G, WNK1, WNK4, KLHL3, CUL3, nuclear receptor subfamily 3, group C (NR3C)1, NR3C2, and HSD11B2 were screened by targeted resequencing in 260 Chinese early-onset hypertensive patients. Additionally, exon 13 of both SCNN1B and SCNN1G was sequenced in an independent cohort of 506 Chinese early-onset hypertensive patients...
September 14, 2017: Journal of Hypertension
https://www.readbyqxmd.com/read/28878664/a-novel-prkar1a-mutation-identified-in-a-patient-with-isolated-primary-pigmented-nodular-adrenocortical-disease
#2
Sira Korpaisarn, Objoon Trachoo, Bhakbhoom Panthan, Rangsima Aroonroch, Ronnarat Suvikapakornkul, Chutintorn Sriphrapradang
Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of Cushing syndrome, especially the isolated form without Carney complex, associated with germline mutations in PRKAR1A, the protein kinase A regulatory subunit type 1 alpha gene. We report a 31-year-old female who presented with secondary amenorrhea, cushingoid appearance, and hypertension without Carney complex. Biochemical laboratory examinations confirmed the ACTH-independent adrenal Cushing syndrome with negative Liddle test. A small right adrenal adenoma of 0...
May 2017: Case Reports in Oncology
https://www.readbyqxmd.com/read/28870047/-expert-consensus-for-the-diagnosis-and-treatment-of-patients-with-gitelman-syndrome
#3
(no author information available yet)
Gitelman syndrome (GS) is an autosomal recessive, salt-losing tubulopathy caused by inactivating mutations in the SLC12A3 gene that encodes the thiazide-sensitive sodium-chloride cotransporter (NCC). GS is characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. GS is one of the most common inherited renal tubulopathy with a prevalence estimated at about one to ten per 40 000 people. The prevalence of GS is even higher in Asia than other countries. The majority of GS patients present mild and nonspecific symptoms during adolescence or adulthood...
September 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/28718682/genetic-screening-of-scnn1b-and-scnn1g-genes-in-early-onset-hypertensive-patients-helps-to-identify-liddle-syndrome
#4
Kun-Qi Yang, Chao-Xia Lu, Peng Fan, Ying Zhang, Xu Meng, Xue-Qi Dong, Fang Luo, Ya-Xin Liu, Hui-Min Zhang, Hai-Ying Wu, Jun Cai, Xue Zhang, Xian-Liang Zhou
BACKGROUND: Liddle syndrome is an autosomal dominant form of monogenic hypertension. Phenotypic variability makes it difficult to identify patients with Liddle syndrome, resulting in misdiagnosis and severe complications at early age. OBJECTIVES: To identify mutation in SCNN1B and SCNN1G genes in an adolescent with suspicious Liddle syndrome and his family members and to explore the screening target subjects of Liddle syndrome. METHODS: Genetic analysis of the C-terminus of SCNN1B and SCNN1G genes was conducted in an adolescent, with treatment-resistant hypertension and hypokalemia, who was suspected of having Liddle syndrome, and his family members...
July 18, 2017: Clinical and Experimental Hypertension: CHE
https://www.readbyqxmd.com/read/28710092/a-missense-mutation-in-the-extracellular-domain-of-%C3%AE-enac-causes-liddle-syndrome
#5
Mahdi Salih, Ivan Gautschi, Miguel X van Bemmelen, Michael Di Benedetto, Alice S Brooks, Dorien Lugtenberg, Laurent Schild, Ewout J Hoorn
Liddle syndrome is an autosomal dominant form of hypokalemic hypertension due to mutations in the β- or γ-subunit of the epithelial sodium channel (ENaC). Here, we describe a family with Liddle syndrome due to a mutation in αENaC. The proband was referred because of resistant hypokalemic hypertension, suppressed renin and aldosterone, and no mutations in the genes encoding β- or γENaC. Exome sequencing revealed a heterozygous, nonconservative T>C single-nucleotide mutation in αENaC that substituted Cys479 with Arg (C479R)...
July 14, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28604669/structural-and-mechanistic-basis-of-differentiated-inhibitors-of-the-acute-pancreatitis-target-kynurenine-3-monooxygenase
#6
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
#7
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
#8
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
#9
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
#10
REVIEW
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
#11
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
#12
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...
March 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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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