Signs and Symptoms
Liddle syndrome has no overt symptoms that distinguish it from other disorders. Individuals with hypertension can also have low potassium levels in their blood (hypokalemia). Symptoms of hypokalemia include muscle weakness or pain, fatigue, constipation, or palpitations. A lack of potassium can also result in metabolic alkalosis, which raises blood pH.
Causes
This autosomal dominant disorder is caused by mutations in the epithelial sodium channel genes (SCNN1A, SCNN1B, and SCNN1G). Mutations cause an increase in ENaC activity, sodium and water retention, and hypertension.
The prevalence of Liddle syndrome varies according to estimates. According to a survey of symptoms among veterans with hypertension, 6% met the non-genetic diagnostic criteria for Liddle syndrome (Tapolyai et al. 2010), a much higher prevalence than genetically confirmed cases.
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