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Liddle Syndrome (Pseudoaldosteronism)

Autosomal dominant tubular disorder caused by gain-of-function mutations of the epithelial sodium channel (ENaC) producing early-onset severe hypertension, hypokalemic metabolic alkalosis, and suppressed renin-aldosterone responsive to amiloride.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

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What is Liddle Syndrome (Pseudoaldosteronism)?

Liddle syndrome is an autosomal dominant tubulopathy caused by gain-of-function mutations in the SCNN1B or SCNN1G gene encoding the β or γ subunits of the epithelial sodium channel (ENaC) in the cortical collecting duct, leading to constitutive sodium reabsorption, volume expansion, and potassium wasting.

Pathophysiology produces low-renin, low-aldosterone hypertension (mineralocorticoid-independent), hypokalemic metabolic alkalosis, and suppression of the renin-angiotensin-aldosterone axis; cardiovascular consequences include left ventricular hypertrophy, premature atherosclerosis, and end-organ damage if untreated.

Diagnosis is suspected in children, adolescents, or young adults with severe or resistant hypertension and low aldosterone, supported by suppressed plasma renin activity and confirmed by genetic testing of SCNN1B/SCNN1G; family screening is essential because of autosomal dominant inheritance with variable expressivity.

Symptoms

Severe early-onset hypertension, often diagnosed in childhood or young adulthood
Hypokalemia presenting as muscle weakness, fatigue, cramps, or paralysis
Metabolic alkalosis with elevated bicarbonate and normal or low chloride
Symptoms of long-standing hypertension: headaches, palpitations, blurred vision
Cardiac complications including left ventricular hypertrophy, arrhythmias, and stroke at young age in untreated patients
Family history of early hypertension or stroke consistent with autosomal dominant transmission

Risk Factors

First-degree relative with confirmed Liddle syndrome or unexplained early-onset hypertension
Carriage of pathogenic SCNN1B or SCNN1G mutation (rare SCNN1A variants reported)
High dietary sodium intake, which exacerbates volume expansion and hypertension
Pregnancy can worsen hypertension and hypokalemia, requiring careful monitoring
Nonadherence to potassium-sparing therapy and sodium restriction
Misdiagnosis as essential hypertension leading to inappropriate therapy and ongoing target organ damage

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Child or young adult with severe, resistant, or familial hypertension — referral to nephrology or specialized hypertension clinic for evaluation of secondary hypertension
  • Persistent hypokalemia despite potassium replacement, with metabolic alkalosis and low aldosterone — endocrinology and nephrology assessment
  • Family member of confirmed Liddle syndrome patient — genetic counseling and predictive testing
  • Suspected Liddle syndrome patient with target organ damage (left ventricular hypertrophy, kidney impairment, stroke) — multidisciplinary evaluation
  • Pregnant patient with Liddle syndrome — joint care between obstetrics, nephrology, and clinical genetics

Treatment Methods

01
Direct ENaC blockade with amiloride (typically 5–20 mg daily) or triamterene as first-line therapy, preferred over conventional antihypertensives
02
Strict dietary sodium restriction (less than 2 g sodium per day) to reduce volume expansion and potassium wasting
03
Avoid mineralocorticoid receptor antagonists (spironolactone, eplerenone), which are ineffective because the channel activation is independent of aldosterone
04
Potassium repletion in symptomatic hypokalemia, gradually tapered as ENaC blockade restores potassium balance
05
Long-term follow-up for blood pressure control, end-organ damage, electrolyte balance, and family member screening; genetic counseling for autosomal dominant inheritance

Which Department to Visit?

You can visit our Endokrinoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.