ArticleAACE clinical case reports
Liddle Syndrome due to a Novel c.1713 Deletion in the Epithelial Sodium Channel β-Subunit in a Normotensive Adolescent.
Article in AACE clinical case reports. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 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
5 citing papers in PubMed, 2 syntheses or guidelines pooled it, 10 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
- Adrenal causes of endocrine hypertension in childhood or adolescence.Journal of endocrinological investigation · 2025Review
- Challenges in diagnosing and treating Liddle syndrome in resource-limited settings: A case report from Indonesia.Narra J · 2024Article
- Pathogenicity and Long-Term Outcomes of Liddle Syndrome Caused by a Nonsense Mutation ofFrontiers in pediatrics · 2022Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveLiddle syndrome (LS) is a rare autosomal dominant condition secondary to a gain-of-function mutation affecting the epithelial sodium channels (ENaCs) in the distal nephron. It presents with early-onset hypertension, hypokalemia, and metabolic alkalosis in the face of hyporeninemia and hypoaldosteronism. We report a novel mutation affecting the ENaCs in a normotensive adolescent with LS.
methodsWe describe a pediatric case of LS with a novel mutation and review the condition's presentation and management. To date, 31 different mutations in the β- or γ-subunit of ENaCs have been reported as associated with LS.
resultsWe describe a 16-year-old girl presenting with muscle cramps with a strong family history of hypertension and hypokalemia. Initial investigations revealed hypokalemia together with hypoaldosteronism and hyporeninemia. Subsequent genetic testing revealed a novel mutation in
conclusionIt is essential to consider investigating the presence of rare genetic syndromes, like LS, when a patient presents with hypokalemia. Further studies are needed to understand the variable presentation of this condition.
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