Liddle Syndrome

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Liddle's syndrome is an [[autosomal dominant|autosomal dominant]] disease. It is recognised by early and severe [[hypertension|hypertension]]. Testing for Liddle's syndrome involves the measurement of [[plasma|plasma]] [[renin|renin]], [[plasma|plasma]] [[aldersterone|aldersterone]] and [[blood|blood]] [[electrolyte|electrolyte]] levels. [[Amiloride|Amiloride]], a [[Diuretic|diuretic]], is used in the treatment of Liddle's syndrome.
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Liddle's syndrome is an [[Autosomal dominant|autosomal dominant]] disease. It is recognised by early and severe [[Hypertension|hypertension]]. With irregualtion in [[Blood pressure|blood pressure]], testing for Liddle's syndrome involves the measurement of [[Plasma|plasma]] [[Renin|renin]], [[Plasma|plasma]] [[Aldersterone|aldersterone]] and [[Blood|blood]] [[Electrolyte|electrolyte]] levels. These would be found to be abnormally low in a patient with Liddle's syndrome.
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<u>Genetic Basis</u>
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Liddle mutation is&nbsp;in the C terminus of&nbsp;the beta and gamma subunits, which play a key role in trafficking the ENaC protein. AA&nbsp;motif within the C terminus is required for binding of [[Nedd4|Nedd4]]. Once [[Nedd4|Nedd4]] is&nbsp;bound it regulates attachment of [[Ubiquitin|ubiquitin]] and triggers [[Endocytosis|endocytosis]] of ENaC. Mutation&nbsp;therefore increases&nbsp;ENaC expression, increasing salt,&nbsp;blood volume and ultimately blood pressure.&nbsp;&nbsp;
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<u>Treatment</u>
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[[Amiloride|Amiloride]], a [[Diuretic|diuretic]], is used in the treatment of Liddle's syndrome. It works by inhibition of ENaC and so inhibition of sodium reabsorption and so water without depleting potassium levels.

Revision as of 16:13, 9 November 2010

Liddle's syndrome is an autosomal dominant disease. It is recognised by early and severe hypertension. With irregualtion in blood pressure, testing for Liddle's syndrome involves the measurement of plasma renin, plasma aldersterone and blood electrolyte levels. These would be found to be abnormally low in a patient with Liddle's syndrome.

Genetic Basis

Liddle mutation is in the C terminus of the beta and gamma subunits, which play a key role in trafficking the ENaC protein. AA motif within the C terminus is required for binding of Nedd4. Once Nedd4 is bound it regulates attachment of ubiquitin and triggers endocytosis of ENaC. Mutation therefore increases ENaC expression, increasing salt, blood volume and ultimately blood pressure.  

Treatment

Amiloride, a diuretic, is used in the treatment of Liddle's syndrome. It works by inhibition of ENaC and so inhibition of sodium reabsorption and so water without depleting potassium levels.

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