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Page 1
Endocrine Hypertension: A Practical Approach.
Pappachan JM, Buch HN. Pappachan JM, et al. Adv Exp Med Biol. 2017;956:215-237. doi: 10.1007/5584_2016_26. Adv Exp Med Biol. 2017. PMID: 27864805 Review.
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. ...
Other conditions that can cause endocrine hypertension are: congenital adrenal hyperplasia, Liddle syndrome, pheochromocytomas …
Clinical and genetic characteristics of the patients with hypertension and hypokalemia carrying a novel SCNN1A mutation.
Chen M, Lv X, Li J, Guo M, Ma S. Chen M, et al. Scand J Clin Lab Invest. 2022 Nov-Dec;82(7-8):576-580. doi: 10.1080/00365513.2022.2140454. Epub 2022 Nov 6. Scand J Clin Lab Invest. 2022. PMID: 36336351
The objective of this study was to clinically and genetically characterize a pedigree with Liddle syndrome (LS). A LS pedigree comprising with one proband and seven family members was enrolled. ...The novel mutation site was inherited in an autosomal dominant manner …
The objective of this study was to clinically and genetically characterize a pedigree with Liddle syndrome (LS). A LS pedigree …
Epithelial Na+ channel (ENaC), hormones, and hypertension.
Bubien JK. Bubien JK. J Biol Chem. 2010 Jul 30;285(31):23527-31. doi: 10.1074/jbc.R109.025049. Epub 2010 May 11. J Biol Chem. 2010. PMID: 20460373 Free PMC article. Review.
This idea is based on the finding that, in Liddle syndrome, a mutation of the beta- and/or gamma-subunits of ENaC produces an activated ion channel, in turn resulting in severe hypertension that is resistant to most forms of conventional antihypertensive therapy. .. …
This idea is based on the finding that, in Liddle syndrome, a mutation of the beta- and/or gamma-subunits of ENaC produces an …
Registration of amiloride in South Africa: Cutting the Gordian knot.
Rayner BL, Spence JD, Bryer A, Mpe MT. Rayner BL, et al. S Afr Med J. 2019 Aug 28;109(9):632-634. doi: 10.7196/SAMJ.2019.v109i9.14158. S Afr Med J. 2019. PMID: 31635585
It is used for the treatment of potassium depletion and hypertension, and is the specific therapy for hypertension due to overactivity of the ENaC (Liddle syndrome and several additional genetic causes of the Liddle phenotype - low renin and low aldosterone). ...Alt …
It is used for the treatment of potassium depletion and hypertension, and is the specific therapy for hypertension due to overactivity of th …
Molecular biology of Na+ absorption.
Barbry P, Hofman P. Barbry P, et al. Am J Physiol. 1997 Sep;273(3 Pt 1):G571-85. doi: 10.1152/ajpgi.1997.273.3.G571. Am J Physiol. 1997. PMID: 9316461 Review.
Gain-of-function mutations affecting beta-ENaC and gamma-ENaC genes can cause Liddle syndrome, a rare from of genetic hypertension. Loss-of-function mutations affecting alpha-ENaC or beta-ENaC genes can cause pseudohypoaldosteronism type 1. Steroids strongly increas …
Gain-of-function mutations affecting beta-ENaC and gamma-ENaC genes can cause Liddle syndrome, a rare from of genetic hyperten …
Liddle's-like syndrome associated with nephrotic syndrome secondary to membranous nephropathy: the first case report.
Yamaguchi E, Yoshikawa K, Nakaya I, Kato K, Miyasato Y, Nakagawa T, Kakizoe Y, Mukoyama M, Soma J. Yamaguchi E, et al. BMC Nephrol. 2018 May 23;19(1):122. doi: 10.1186/s12882-018-0916-3. BMC Nephrol. 2018. PMID: 29792170 Free PMC article.
On admission, hypertension, spironolactone-resistant hypokalemia (2.43 mEq/l), hyporeninemic hypoaldosteronism, and metabolic alkalosis, which suggested Liddle's syndrome, were observed. Treatment with triamterene together with a steroid for nephrotic syndrome resulted in …
On admission, hypertension, spironolactone-resistant hypokalemia (2.43 mEq/l), hyporeninemic hypoaldosteronism, and metabolic alkalosis, whi …
Pediatric Liddle Syndrome Caused by a Novel SCNN1G Variant in a Chinese Family and Characterized by Early-Onset Hypertension.
Fan P, Pan XC, Zhang D, Yang KQ, Zhang Y, Tian T, Luo F, Ma WJ, Liu YX, Wang LP, Zhang HM, Song L, Cai J, Zhou XL. Fan P, et al. Am J Hypertens. 2020 Jul 18;33(7):670-675. doi: 10.1093/ajh/hpaa037. Am J Hypertens. 2020. PMID: 32161960 Free PMC article.
BACKGROUND: Liddle syndrome (LS), an autosomal dominant disorder, is a common monogenic hypertension in pediatrics. ...METHODS: Next-generation sequencing and in silico analysis were performed in the proband to discover candidate variants. Sanger sequencing was used …
BACKGROUND: Liddle syndrome (LS), an autosomal dominant disorder, is a common monogenic hypertension in pediatrics. ...METHODS …
A novel nonsense mutation in the beta-subunit of the epithelial sodium channel causing Liddle syndrome.
Mareš Š, Filipovský J, Vlková K, Pešta M, Černá V, Hrabák J, Mlíková Seidlerová J, Mayer O. Mareš Š, et al. Blood Press. 2021 Oct;30(5):291-299. doi: 10.1080/08037051.2021.1942785. Epub 2021 Jul 5. Blood Press. 2021. PMID: 34223773
PURPOSE: Liddle syndrome is a hereditary form of arterial hypertension caused by mutations in the genes coding of the epithelial sodium channel - SCNN1A, SCNN1B and SCNN1G. ...CONCLUSIONS: This finding expands the spectrum of known mutations causing Liddle …
PURPOSE: Liddle syndrome is a hereditary form of arterial hypertension caused by mutations in the genes coding of the epitheli …
Cerebrovascular consequences of pseudohyperaldosteronism.
Smith JH, Lindor NM, Rabinstein AA. Smith JH, et al. J Clin Hypertens (Greenwich). 2012 Aug;14(8):547-52. doi: 10.1111/j.1751-7176.2012.00639.x. Epub 2012 May 3. J Clin Hypertens (Greenwich). 2012. PMID: 22863163 Free PMC article.
During a median follow-up of 11 years (range: 1-30), 4 of 23 (17.4%) patients had a cerebrovascular event recorded. Intracranial hemorrhage was not observed in any patient. Cerebrovascular events tended to occur in older patients, minorities, and patients with a later diag …
During a median follow-up of 11 years (range: 1-30), 4 of 23 (17.4%) patients had a cerebrovascular event recorded. Intracranial hemorrhage …
A Study of Factors Associated with the Development of Pseudoaldosteronism in Outpatients.
Mantani N, Oka H, Watanabe T. Mantani N, et al. J Altern Complement Med. 2020 Apr;26(4):329-334. doi: 10.1089/acm.2019.0415. Epub 2020 Jan 24. J Altern Complement Med. 2020. PMID: 31977240
Results: No patients had abnormal levels of serum albumin or D-bil around the time of the onset. In six women, the highest correlation coefficient was observed between BSA and the glycyrrhiza dose in Kampo extract at the onset of pseudoaldosteronism. Conclusions: The findi …
Results: No patients had abnormal levels of serum albumin or D-bil around the time of the onset. In six women, the highest correlation coeff …
24 results