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Introduction <p>Liddle syndrome is an autosomal dominant disorder caused by pathogenic gain-of-function variants in genes encoding epithelial sodium channel subunits, including α (SCNN1A), β (SCNN1B), and γ (SCNN1G). Among these, SCNN1B variants are most prevalent, with nearly all previously reported cases presenting with hypertension.</p> Case Presentation <p>We report a 16-year-old Chinese female patient who presented with hypokalemia without hypertension. Laboratory investigations revealed suppressed plasma renin and aldosterone levels. Genetic sequencing identified a heterozygous SCNN1B variant (c.1852&#xa0;C &gt; T,p.Pro618Ser), leading to a confirmed diagnosis of Liddle syndrome. We systematically analyzed phenotypic characteristics of SCNN1B-related cases from the PubMed database.</p> Conclusion <p>While Liddle syndrome typically manifests with hypertension, hypokalemia, and suppressed renin-aldosterone levels, our analysis demonstrates clinical heterogeneity that may correlate with specific mutation loci. This case highlights the importance of recognizing atypical presentations, particularly in young patients exhibiting isolated hypokalemia. Definitive diagnosis through genetic sequencing is crucial to enable timely initiation of targeted therapy, including ENaC blockade and potassium-sparing diuretics, thereby preventing long-term complications of chronic electrolyte imbalance.</p>

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Liddle syndrome with a SCNN1B mutation: a case report and systematic review

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年7月21日

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  • Qian Tang,
  • Yangfan Zhou,
  • Lin Liu,
  • Min Chen,
  • Lin Liu,
  • Yan Wang,
  • Guangju Zhou,
  • Meijun Xie

摘要

Introduction

Liddle syndrome is an autosomal dominant disorder caused by pathogenic gain-of-function variants in genes encoding epithelial sodium channel subunits, including α (SCNN1A), β (SCNN1B), and γ (SCNN1G). Among these, SCNN1B variants are most prevalent, with nearly all previously reported cases presenting with hypertension.

Case Presentation

We report a 16-year-old Chinese female patient who presented with hypokalemia without hypertension. Laboratory investigations revealed suppressed plasma renin and aldosterone levels. Genetic sequencing identified a heterozygous SCNN1B variant (c.1852 C > T,p.Pro618Ser), leading to a confirmed diagnosis of Liddle syndrome. We systematically analyzed phenotypic characteristics of SCNN1B-related cases from the PubMed database.

Conclusion

While Liddle syndrome typically manifests with hypertension, hypokalemia, and suppressed renin-aldosterone levels, our analysis demonstrates clinical heterogeneity that may correlate with specific mutation loci. This case highlights the importance of recognizing atypical presentations, particularly in young patients exhibiting isolated hypokalemia. Definitive diagnosis through genetic sequencing is crucial to enable timely initiation of targeted therapy, including ENaC blockade and potassium-sparing diuretics, thereby preventing long-term complications of chronic electrolyte imbalance.