Liddle syndrome

Vnitr Lek. 2022 Winter;68(E-8):8-11. doi: 10.36290/vnl.2022.115.


Liddle syndrome is an inherited form of arterial hypertension with autosomal dominant pattern of inheritance. It is caused by activating mutation of genes coding of the epithelial sodium channel in distal nephron. Mutation leads to excessive reabsorbtion of sodium ions and volume expansion resulting in arterial hypertension. Antoher typical laboratory findings are hypokalaemia, low levels of serum aldosteron and metabolic alkalosis. Phenotypic variability makes it difficult to identify patients with Liddle syndrome, often resulting in misdiagnosis and severe complications at early age. Genetic studies should be done to confirm the diagnosis. Therapy of Liddle syndrome is based on administration of epithelial sodium channel blocker amilorid.

Keywords: Aldosterone; Liddle syndrome; NEDD4; amilorid; arterial hypertension; epithelial sodium channel; hypokalaemia.

MeSH terms

  • Epithelial Sodium Channels / genetics
  • Epithelial Sodium Channels / metabolism
  • Humans
  • Hypertension*
  • Hypokalemia* / diagnosis
  • Hypokalemia* / etiology
  • Hypokalemia* / therapy
  • Liddle Syndrome* / diagnosis
  • Liddle Syndrome* / genetics
  • Liddle Syndrome* / therapy
  • Mutation


  • Epithelial Sodium Channels