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We know that it causes heart disease

2006-11-24 22:41:03 · 2 answers · asked by Dennis V 1 in Health Diseases & Conditions Heart Diseases

2 answers

Liddle's Syndrome is an autosomal dominant disorder that mimics hyperaldosteronism.

It involves problems with excess absorption of sodium and loss of potassium.

The syndrome is independent of Aldosterone Levels which are usually low.

The syndrome is caused by disregulation of an epithelial Na+ channel (ENaC) due to a genetic mutation. The mutation changes a domain in the channel so it is no longer degraded correctly by the Ubiquitin Proteasome system. Specifically the PY motif in the protein is deleted or altered so the E3 ligase (Nedd4) no longer recognizes the channel.


Liddle's Syndrome is inherited in an autosomal dominant fashion.The treatment is with a potassium sparing diuretic such as amiloride or triamterene.

Definitions:
autosomal- An autosome is a non-sex chromosome. It is an ordinary paired chromosome that is the same in both sexes of a species. For example, in humans, there are 22 pairs of autosomes. The X and Y chromosomes are not autosomal.
Non-autosomal chromosomes are usually referred to as sex chromosomes, allosomes or heterosomes.
Uses
An autosomal dominant gene is one on an autosome that is always expressed, even if a single copy exists. The chance is 1 in 2 (50%) for passing this autosomal dominant gene to a particular offspring. There are 23 pairs of chromosomes in humans (22 autosomes, 1 allosome

Hyperaldosteronism- is a medical condition where too much aldosterone is produced by the adrenal glands, which can lead to lowered levels of potassium.

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Here is More I found out:
Liddle's syndrome is a rare hereditary disorder in which the kidneys excrete potassium but retain too much sodium and water, leading to high blood pressure.

The gene that causes Liddle's syndrome is dominant, meaning that children of a person with the disorder have a 50% chance of inheriting the defective gene. The disorder does not always cause symptoms. When it does, symptoms such as high blood pressure often begin during childhood.

The condition is effectively treated by drugs that increase sodium excretion and lessen potassium excretion, such as triamtereneSome Trade Names
DYRENIUM
or amilorideSome Trade Names
MIDAMOR
. These drugs effectively lower the blood pressure. The prognosis is very good.

I put several links that had really good information. including a article/ study.

2006-11-24 23:15:58 · answer #1 · answered by Twisted Vixen 4 · 0 0

This is a rare form of hypertension.

2006-11-25 06:45:32 · answer #2 · answered by Frank Furillo 5 · 0 0

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