Liddle Syndrome

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Disease overview

Mutation in 1 of 3 ENaC genes (SCNN1A, SCNN1B, and SCNN1G) producing over-activity of the ENaC channel of the kidney collecting tubules, even in the absence of mineralocorticoid signaling

Common symptoms

Hypertension in the setting of low aldosterone and reninmay be accompanied by hypokalemia and metabolic alkalosis (due to loss of potassium and protons in urine). Resembles hyperaldosteronism but with low aldosterone.

WHEN TO SUSPECT

  • Recommendation 1

    Resistant hypertension with low serum aldosterone and renin is suggestive of diagnosis

  • Recommendation 2

    confirmatory testing is made with a gene panel. Most commercial panels only include SCNN1B and SCNN1G variants

  • Recommendation 3

    separate tests are available for SCNN1A.

HOW TO TEST

  • Recommendation 1

    Resistant hypertension with low serum aldosterone and renin is suggestive of diagnosis

  • Recommendation 2

    confirmatory testing is made with a gene panel. Most commercial panels only include SCNN1B and SCNN1G variants

  • Recommendation 3

    separate tests are available for SCNN1A.

TREATMENT

  • Recommendation 1

    Potassium-sparing diuretics, preferably amiloride as first-line, should be used to help manage hypertension. Triamterene is another option. Low salt diet is recommended. Aldosterone-blocking diuretics (spironolactone, eplenerone) are ineffective and should not be used.

PRIMARY CARE

  • Recommendation 1

    Life-long hypertension management is needed.

FURTHER SUPPORT

CLINICAL TRIALS

  • Recommendation 1

    No trials are currently open

  • Recommendation 2

    one registry in the UK is recruiting patients for consideration of future trials.

Sources

No data available

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