| Entry |
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| Name |
Liddle syndrome
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| Description |
Liddle syndrome (LS) is a rare form of autosomal dominant hypertension characterized by hypokalemic metabolic alkalosis, low-renin activity, and suppressed aldosterone secretion. The mutations in the epithelial Na+ channel gene cause failure of the protein endocytosis and accumulation of active channels at the cell surface, leading persistent absorption of Na+ and resulting in large blood volume and high blood pressure.
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| Category |
Endocrine system disease; Urinary system diseases
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| Pathway |
hsa04960 Aldosterone-regulated sodium reabsorption | |
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| Gene |
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| Drug |
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| Other DBs |
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| Reference |
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| Authors |
Rotin D |
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| Title |
Role of the UPS in Liddle syndrome. |
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| Journal |
BMC Biochem 9 Suppl 1:S5 (2008) |
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| Reference |
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| Authors |
Lang F, Capasso G, Schwab M, Waldegger S |
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| Title |
Renal tubular transport and the genetic basis of hypertensive disease. |
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| Journal |
Clin Exp Nephrol 9:91-9 (2005) |
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| Reference |
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| Authors |
Warnock DG |
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| Title |
Liddle syndrome: genetics and mechanisms of Na+ channel defects. |
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| Journal |
Am J Med Sci 322:302-7 (2001) |
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