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代谢性碱中毒、无力、多尿、烦渴多饮、瘫痪、横纹肌溶解、抽搐、低血钾、感觉障碍
Liddle syndrome is a hereditary gain-of-function mutation of the epithelial sodium channel (ENaC) in the collecting duct, causing sodium retention, low-renin/low-aldosterone hypertension, and hypokalemic metabolic alkalosis, mimicking primary aldosteronism. Treatment: amiloride (ENaC blocker) or triamterene; sodium restriction; adrenal-ectomy is ineffective (aldosterone is low); spironolactone is not effective.
Early-onset hypertension; hypokalemia; low renin/low aldosterone; family history
ENaC gain-of-function increases sodium reabsorption, causing hypertension with low renin/aldosterone.
Amiloride/triamterene; sodium restriction; spironolactone ineffective; adrenalectomy not useful
Family screening; early treatment.
It is recommended to visit the Nephrology/Endocrinology department; an appointment can be booked on this platform before the visit.
Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.
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