Overview of Monogenic or Mendelian Forms of Hypertension

Raina, Rupesh; Krishnappa, Vinod; Das, Abhijit; Amin, Harshesh; Radhakrishnan, Yeshwanter; Nair, Nikhil; Kusumi, Kirsten

doi:10.3389/fped.2019.00263

Cited by 48 publications

(58 citation statements)

References 49 publications

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“…Estudos em famílias e em gêmeos demonstram uma herdabilidade de 30 a 50%. 239,240 A maioria desse risco genético é transmitido de forma poligênica, ou seja, através da contribuição de centenas de variações de DNA que, em conjunto, aumentam o risco de desenvolvimento do fenótipo hipertensivo, após interação com fatores ambientais. Um estudo recente com mais de 1 milhão de pacientes demonstrou que variações de DNA em mais de 900 genes estão associadas ao controle da PA, o que explica cerca de 27% da herdabilidade do controle da PA. 240 Esse estudo abre caminho para o uso futuro de painéis genéticos de avaliação de risco de HA, que poderiam ajudar a guiar os esforços preventivos.…”

Section: Genética E Hipertensão Arterialunclassified

“…Em contraste com a HA primária, diversas formas secundárias de HA são causadas por mutação em um gene único (HA monogênica), de herança familiar, como o hiperaldosteronismo familiar, a síndrome de Liddle, a hiperplasia adrenal congênita e as formas herdadas de feocromocitoma e paraganglioma (Quadro 3.8). 240,241 Essas causas devem ser investigadas nos pacientes com suspeita de HA secundária. O diagnóstico genético preciso pode levar não somente ao tratamento adequado, como também permitir o aconselhamento genético familiar e o rastreio precoce em membros assintomáticos da família.…”

Section: Genética E Hipertensão Arterialunclassified

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Diretrizes Brasileiras de Hipertensão Arterial – 2020

Barroso¹,

Rodrigues²,

Bortolotto³

et al. 2021

Arquivos Brasileiros De Cardiologia

647

202

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Section: Genética E Hipertensão Arterialunclassified

Diretrizes Brasileiras de Hipertensão Arterial – 2020

Barroso¹,

Rodrigues²,

Bortolotto³

et al. 2021

Arquivos Brasileiros De Cardiologia

647

202

View full text Add to dashboard Cite

show abstract

“… 20 Renin and aldosterone are suppressed by both the elevated sodium level and the volume expansion. 5 This molecular mechanism explains the typical clinical manifestations observed in LS patients.…”

Section: Discussionmentioning

confidence: 86%

“… 3 , 4 Keeping genetic conditions in mind is helpful when diagnosing hypertension in children, because the younger the child, the more likely it is that their hypertension is due to a secondary cause. 5 …”

mentioning

confidence: 99%

Pediatric Liddle Syndrome Caused by a Novel SCNN1G Variant in a Chinese Family and Characterized by Early-Onset Hypertension

Fan

Pan

Zhang

et al. 2020

American Journal of Hypertension

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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.

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“…From a clinical point of view, these two mechanisms can be differentiated by blood pressure measurement. Figure 1 summarizes the genetic and acquired diseases associated with these two main etiologies [1][2][3][4][5][6]. Algorithm of the causes of hypokaliemic metabolic alkalosis.…”

Section: Introductionmentioning

confidence: 99%

A Rare Cause of Chronic Hypokalemia with Metabolic Alkalosis: Case Report and Differential Diagnosis

et al. 2020

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Hypokalemia and metabolic alkalosis can be present in different rare diseases, and the differential diagnosis of these forms is challenging. Apparent mineralcorticoid (AME) excess syndrome is one of these conditions. Characterized by increased blood pressure due to excessive sodium retention and plasma volume, it is caused by a mutation in the HSD11B2 gene encoding the oxydoreductase enzyme 11β-hydroxysteroide dehydrogenase type 2. We report the case of a child presenting with failure to thrive associated with early detection of hypokalemia, metabolic alkalosis, nephrocalcinosis and hypertension in which AME syndrome was detected. A novel mutation in the HSD11B2 gene was identified in this patient. In clinical pictures characterized by metabolic alkalosis and hypokalemia, the evaluation of renin, aldosterone and blood pressure is crucial for accurate diagnosis. AME syndrome is a rare disorder that can be an insidious but lethal disease, if untreated. With clinical signs appearing during the first days of life. Early diagnosis is imperative in order to enable prompt and adequate treatment to improve the outcome of these patients.

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Overview of Monogenic or Mendelian Forms of Hypertension

Cited by 48 publications

References 49 publications

Diretrizes Brasileiras de Hipertensão Arterial – 2020

Diretrizes Brasileiras de Hipertensão Arterial – 2020

Pediatric Liddle Syndrome Caused by a Novel SCNN1G Variant in a Chinese Family and Characterized by Early-Onset Hypertension

A Rare Cause of Chronic Hypokalemia with Metabolic Alkalosis: Case Report and Differential Diagnosis

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