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| Disease found: | Liddle Syndrome |
| Current as of: | October 8, 2024 |
| 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 [more info] |
| Signs and Symptoms: | Hypertension in the setting of low aldosterone and renin; may be accompanied by hypokalemia and metabolic alkalosis (due to loss of potassium and protons in urine). Resembles hyperaldosteronism but with low aldosterone. [more info] |
| Diagnosis: | Resistant hypertension with low serum aldosterone and renin is suggestive of diagnosis; confirmatory testing is made with a gene panel. Most commercial panels only include SCNN1B and SCNN1G variants; separate tests are available for SCNN1A. |
| Treatment: | Potassium-sparing diuretics, preferably amiloride as first-line, should be used to help manage hypertension. Triamterene is another option. [more info] Low salt diet is recommended. Aldosterone-blocking diuretics (spironolactone, eplenerone) are ineffective and should not be used. [more info] |
| Clinical Management: | Life-long hypertension management is needed. [more info] |
| Referral: | 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: | No trials are currently open; one registry in the UK is recruiting patients for consideration of future trials. |