Abstract:
BACKGROUND:Liddle syndrome (LS), an autosomal dominant disorder, is a common monogenic hypertension in pediatrics. In this study, we reported a novel SCNN1G variant in a Chinese family with pediatric LS, and conduct a systematic review of epithelial sodium channel (ENaC)-gene-positive LS cases to conclude the clinical genetic features of LS in childhood. METHODS:Next-generation sequencing and in silico analysis were performed in the proband to discover candidate variants. Sanger sequencing was used to identify the predicted likely pathogenic variant. LS patients in this family were treated with amiloride. The Medline database was searched to summarize clinical features of pediatric LS cases whose age at genetic diagnosis was not more than 18 years. RESULTS:Genetic analysis identified a novel SCNN1G missense variant (c.1874C>T, p.Pro625Leu) in the proband with LS in childhood. In silico analysis revealed this heterozygous variant was highly conserved and deleterious. A total of 38 publications described pediatric LS associated with 25 pathogenic variants in SCNN1B and SCNN1G in 54 children. Despite the phenotypic heterogeneity, early-onset hypertension is the most common feature. All LS patients in this family or the reviewed cases showed significantly improvements in hypertension and hypokalemia after treatment with ENaC inhibitors. CONCLUSIONS:This study identified a novel SCNN1G missense variant in a patient with pediatric LS, expanding the genetic spectrum of SCNN1G and demonstrating the PY motif of γ-ENaC as a potential mutant region. Early identification and specific management of LS in children and adolescents are important to prevent the development of hypertensive end-organ disease.
journal_name
Am J Hypertensjournal_title
American journal of hypertensionauthors
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 XLdoi
10.1093/ajh/hpaa037subject
Has Abstractpub_date
2020-07-18 00:00:00pages
670-675issue
7eissn
0895-7061issn
1941-7225pii
5803266journal_volume
33pub_type
杂志文章abstract:BACKGROUND:Endothelial dysfunction and arterial stiffening are commonly observed in type 2 diabetes. These abnormalities might be secondary to increased plasma concentrations of homocysteine. We sought to determine whether oral folic acid supplementation, by lowering homocysteine levels, enhanced endothelial function a...
journal_title:American journal of hypertension
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1016/j.amjhyper.2004.08.036
更新日期:2005-02-01 00:00:00
abstract::We investigated the effects of 17 beta-estradiol (beta E2), alpha-estradiol (alpha E2), and progesterone (P) on baseline and vasopressin (AVP)-induced [Ca2+]i in human platelets obtained from healthy male and female volunteers. Platelets were treated with beta E2, alpha E2, P, or ethanol vehicle for 30 min at 37 degre...
journal_title:American journal of hypertension
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doi:10.1016/0895-7061(94)00168-B
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journal_title:American journal of hypertension
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doi:10.1093/ajh/7.7.597
更新日期:1994-07-01 00:00:00
abstract:BACKGROUND:We investigated the effects of percutaneous transluminal renal angioplasty on left ventricular (LV) mass, and the impact of LV mass reduction on outcomes. METHODS:A total of 144 hypertensive patients with renal artery stenosis (RAS) (mean age 69 years; 22.2% fibromuscular dysplasia (FMD)) who underwent angi...
journal_title:American journal of hypertension
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更新日期:2020-05-21 00:00:00
abstract::Hypertensive renal injury is a major identifiable cause of end-stage renal disease in African-Americans. A complex nexus of sociologic, biologic, environmental, and sociocultural variables are involved in mediating this risk and interrelate with dietary salt consumption and salt sensitivity. It is likely that dietary ...
journal_title:American journal of hypertension
pub_type: 杂志文章,评审
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更新日期:1995-06-01 00:00:00
abstract:BACKGROUND:Nocturnal blood pressure (BP) is associated with risk for cardiovascular events. However, the relationship between nocturnal BP in young adults and cognitive function in midlife remains unclear. METHODS:We used data from the ambulatory BP monitoring substudy of the Coronary Artery Risk Development in Young ...
journal_title:American journal of hypertension
pub_type: 杂志文章,多中心研究
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更新日期:2015-10-01 00:00:00
abstract::Angiotension converting enzyme (ACE) inhibitors and beta-blockers have been reported to possess disparate effects on insulin sensitivity. The aim of this study was to study the effects of the selective beta-1 blocker bisoprolol and of the ACE inhibitor captopril on cellular insulin action in hypertensive individuals. ...
journal_title:American journal of hypertension
pub_type: 临床试验,杂志文章,随机对照试验
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更新日期:1997-12-01 00:00:00
abstract:BACKGROUND:The adverse association between blood pressure and carotid artery intima-media thickness (IMT), a surrogate measure of subclinical atherosclerosis, is well-known. However, whether the G-6A polymorphism of the angiotensinogen (AGT) gene, a candidate gene of hypertension and vascular remodeling, modulates this...
journal_title:American journal of hypertension
pub_type: 杂志文章
doi:10.1016/j.amjhyper.2007.06.001
更新日期:2007-10-01 00:00:00
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journal_title:American journal of hypertension
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更新日期:2001-11-01 00:00:00
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journal_title:American journal of hypertension
pub_type: 杂志文章
doi:10.1016/j.amjhyper.2004.11.011
更新日期:2005-04-01 00:00:00
abstract::Hypertension is a common finding among obstructive sleep apnea (OSA) patients, and is thought to be caused by sympathetic hyperactivity. The present study compares the contributions of the respiratory disturbance index (RDI) as a reflection of sleep fragmentation, and the magnitude of oxygen desaturation, to sympathet...
journal_title:American journal of hypertension
pub_type: 杂志文章
doi:10.1016/s0895-7061(98)00159-9
更新日期:1998-11-01 00:00:00
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journal_title:American journal of hypertension
pub_type: 杂志文章,多中心研究
doi:10.1038/ajh.2007.81
更新日期:2008-05-01 00:00:00
abstract:BACKGROUND:Activation of phosphatidylinositol 3-kinase (PI3K)-Akt signaling by statins increases the activity of endothelial nitric oxide synthase (eNOS). We investigate whether statins (pitavastatin) improve cardiac function and remodeling via eNOS production associated with the PI3K-Akt signaling pathway, Rho-kinase ...
journal_title:American journal of hypertension
pub_type: 杂志文章
doi:10.1038/ajh.2008.333
更新日期:2009-02-01 00:00:00
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journal_title:American journal of hypertension
pub_type: 杂志文章,评审
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更新日期:1989-03-01 00:00:00
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journal_title:American journal of hypertension
pub_type: 临床试验,杂志文章,评审
doi:10.1093/ajh/3.6.512
更新日期:1990-06-01 00:00:00
abstract:BACKGROUND:Seventeen percent of youth in the United States are obese. Obesity has been linked to higher prevalence of hypertension. Past studies were limited by their size and conflicting results. The aim of this study was to analyze trends in adolescents' obesity between 1998 and 2011 and to evaluate the relationship ...
journal_title:American journal of hypertension
pub_type: 杂志文章
doi:10.1093/ajh/hpv007
更新日期:2015-09-01 00:00:00
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journal_title:American journal of hypertension
pub_type: 杂志文章
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更新日期:2017-01-01 00:00:00
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journal_title:American journal of hypertension
pub_type: 杂志文章
doi:
更新日期:1991-10-01 00:00:00
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journal_title:American journal of hypertension
pub_type: 杂志文章
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更新日期:1991-05-01 00:00:00
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journal_title:American journal of hypertension
pub_type: 杂志文章
doi:10.1038/ajh.2009.252
更新日期:2010-03-01 00:00:00
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journal_title:American journal of hypertension
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更新日期:2002-02-01 00:00:00
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journal_title:American journal of hypertension
pub_type: 杂志文章
doi:10.1016/s0895-7061(02)02943-6
更新日期:2002-07-01 00:00:00
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journal_title:American journal of hypertension
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journal_title:American journal of hypertension
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更新日期:2001-08-01 00:00:00
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journal_title:American journal of hypertension
pub_type: 杂志文章
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abstract:BACKGROUND:Debate exists about the relationship between hypovitaminosis D and cardiovascular (CVD) risk. METHODS:This study investigated baseline (n=2,271) 25-hydroxyvitamin D (25(OH)D) and baseline and 4 year (n=1,957) CVD risk in a cohort of Finnish middle-aged male smokers. RESULTS:The prevalences of measured hype...
journal_title:American journal of hypertension
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更新日期:2013-08-01 00:00:00
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journal_title:American journal of hypertension
pub_type: 临床试验,杂志文章,随机对照试验
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更新日期:1997-07-01 00:00:00
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journal_title:American journal of hypertension
pub_type: 杂志文章
doi:10.1093/ajh/6.6.542
更新日期:1993-06-01 00:00:00
abstract::The changes induced by transient hypertension on cardiac structure and function are unclear. Pregnancy-induced hypertension offers a natural and spontaneous model of this condition. To assess the potential of echocardiographic Doppler to unmask left ventricular function impairment, we studied 28 women aged 26.4 +/- 7....
journal_title:American journal of hypertension
pub_type: 杂志文章
doi:10.1016/s0895-7061(00)01264-4
更新日期:2001-03-01 00:00:00
abstract:BACKGROUND:Hypertension and proteinuria are risk factors for adverse renal outcomes in patients with chronic kidney disease. This study investigated the associations of blood pressure and proteinuria on renal function in a community-based population. METHODS:We analyzed data from a nationwide database of 141,514 subje...
journal_title:American journal of hypertension
pub_type: 杂志文章
doi:10.1093/ajh/hpv003
更新日期:2015-09-01 00:00:00