Liddle Syndrome: Difference between revisions
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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. | 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. | ||
<u>Genetic Basis</u> | ==== <u>Genetic Basis</u> ==== | ||
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|Nedd4]]. Once [[Nedd4|Nedd4]] is bound it regulates attachment of [[Ubiquitin|ubiquitin]] and triggers [[Endocytosis|endocytosis]] of [[Enac|ENaC]]. Mutation therefore increases [[Enac|ENaC ]] | 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|Nedd4]]. Once [[Nedd4|Nedd4]] is bound it regulates attachment of [[Ubiquitin|ubiquitin]] and triggers [[Endocytosis|endocytosis]] of [[Enac|ENaC]]. Mutation therefore increases [[Enac|ENaC expression]], increasing salt, blood volume and ultimately blood pressure. | ||
<u>Treatment</u> | ==== <u>Treatment</u> ==== | ||
[[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. | [[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 16:31, 11 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.