ReviewEuropean journal of pediatrics2012
Liddle syndrome in a Serbian family and literature review of underlying mutations.
Review in European journal of pediatrics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 2 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
14 citing papers in PubMed, 2 syntheses or guidelines pooled it, 39 citations in OpenAlex.
- Liddle syndrome with a SCNN1B mutation: a case report and systematic review.BMC nephrology · 2025Pooled it
- A frameshift mutation in theMolecular medicine reports · 2024Pooled it
- Neonatal presentation of a patient with Liddle syndrome, South Africa.African journal of laboratory medicine · 2023Article
- Monogenic forms of low-renin hypertension: clinical and molecular insights.Pediatric nephrology (Berlin, Germany) · 2022Article
- Does treatment-resistant hypertension exist in children? A review of the evidence.Pediatric nephrology (Berlin, Germany) · 2020Review
- Overview of Monogenic Forms of Hypertension Combined With Hypokalemia.Frontiers in pediatrics · 2020Review
- A Novel Frameshift Mutation of SCNN1G Causing Liddle Syndrome with Normokalemia.American journal of hypertension · 2019Article
- Liddle's syndrome mechanisms, diagnosis and management.Integrated blood pressure control · 2019Article
- Liddle syndrome misdiagnosed as primary aldosteronism resulting from a novel frameshift mutation of SCNN1B.Endocrine connections · 2018Article
- Liddle Syndrome: Review of the Literature and Description of a New Case.International journal of molecular sciences · 2018Review
- Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome.Cold Spring Harbor molecular case studies · 2016Article
- Review
- The long-term complications of the inherited tubulopathies: an adult perspective.Pediatric nephrology (Berlin, Germany) · 2015Review
- Liddle Syndrome due to a Novel c.1713 Deletion in the Epithelial Sodium Channel β-Subunit in a Normotensive Adolescent.AACE clinical case reportsArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledSevere and reproducible low-renin hypertension responsive to salt restriction and amiloride-thiazide therapy in a 13-year-old otherwise asymptomatic boy suggested Liddle syndrome. This assumption was strengthened by a positive family history of hypertension poorly responsive to conventional treatment or sudden deaths under 40 years of age in four generations. DNA analysis of the beta and gamma subunits of the epithelial sodium channel revealed a heterozygous mutation c.C1852T (p.Pro618Ser) in the SCNN1B gene in the patient and in both his hypertensive mother and uncle. A PubMed search revealed 21 different disease-causing mutations reported to date, all but two clustering in the cytoplasmic C-terminal regions of either beta (16 mutations) or gamma (5) subunit, leading to a three- to eightfold increase in the amiloride-sensitive sodium current. Inter- and intrafamilial variability in both hypertension and hypokalemia were disclosed, which may not be obligatory among the subjects carrying a Liddle mutation.
conclusionLiddle syndrome should be considered as a cause of hypertension in children or adolescents particularly with suppressed renin activity. Early diagnosis and appropriately tailored treatment avoid complications of long-term unrecognized or inappropriately managed hypertension.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.