Primary care
Recommendation 1
Life-long hypertension management is needed.
Liddle Syndrome
Not yet reviewedThis information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.
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 diagnosisRecommendation 2
confirmatory testing is made with a gene panel. Most commercial panels only include SCNN1B and SCNN1G variantsRecommendation 3
separate tests are available for SCNN1A.
How to test
Recommendation 1
Resistant hypertension with low serum aldosterone and renin is suggestive of diagnosisRecommendation 2
confirmatory testing is made with a gene panel. Most commercial panels only include SCNN1B and SCNN1G variantsRecommendation 3
separate tests are available for SCNN1A.
ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.
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.
Further support
Recommendation 1
Genetic counseling is recommended for patients and relatives. Patients may benefit from support resources via the American Association of Kidney Patients.Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.
Clinical trials
Clinical Trials
Sources
No data available
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