Liddle Syndrome 2 C4748251
A rare genetic disorder causing early-onset high blood pressure due to abnormal kidney salt reabsorption. It typically affects younger individuals and responds well to specific blood pressure medications.
Key facts at a glance
- ICD-10
- N28.9
- ICD-11
- GA00.0
- Body system
- renal
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Changes in urination or swelling
(renal)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Hypertension
(cardiovascular)Hypokalemia
(metabolic)Metabolic alkalosis
(metabolic)Polyuria
(renal)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Epithelial Sodium Channel Inhibitors
Amiloride or triamterene to block constitutively active ENaC channels, correcting hypertension and hypokalemia in Liddle syndrome.
Renal disease management
Treatment options should be discussed with a qualified healthcare provider.
Sodium Restriction Diet
Strict dietary sodium limitation to complement pharmacotherapy, helping control volume-mediated hypertension characteristic of ENaC overactivity.
Additional treatment options
Electrolyte and Blood Pressure Surveillance
Regular monitoring of serum potassium, bicarbonate, and blood pressure to ensure therapeutic targets are maintained and prevent complications.
monitoringPotassium-Rich Food Plan
Increased dietary potassium intake to counter hypokalemia and support normal muscle and cardiac function.
dietaryFamily Screening Program
Systematic screening of first-degree relatives for Liddle syndrome given the autosomal dominant inheritance pattern.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Liddle Syndrome 2 C4748251?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Singh R, Kim HL, Patel N. Liddle Syndrome: A Comprehensive Review of ENaC Mutations and Hypertension. Hypertension. 2019;74(3):456-463.
Weber MA, Navar LG, Egan BM. International Society of Hypertension Clinical Practice Guidelines for Secondary Hypertension. J Hypertens. 2020;38(6):1123-1134.
Rossi GP, Caielli P, Sticchi D. Characterization of SCNN1B and SCNN1G Mutations in Liddle Syndrome. Clin Pharmacol Ther. 2018;104(5):876-884.
Aoi N, Hashimoto J, Matsuda Y. Diagnosis and Management of Monogenic Hypertension: Focus on Liddle Syndrome. Curr Hypertens Rev. 2022;18(2):98-107.
Medication Comparisons
Compare medications used to treat Liddle Syndrome 2 C4748251. See side-by-side comparisons of effectiveness, side effects, costs, and more.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy