Liddle syndrome

What causes Liddle syndrome?

Liddle syndrome is caused by changes (mutations) in the SCNN1B or SCNN1G gene. Each of theses genes provides instructions for making one piece of a protein complex called the epithelial sodium channel (ENaC). These channels are found on the surface of certain cells (epithelial cells) throughout the body, including the kidneys, lungs, and sweat glands. The ENaC channel transports sodium into cells.

Mutations in the SCNN1B and SCNN1G genes affect an important region of the protein involved in signaling for its breakdown (degradation). As a result of the mutations, the protein is not tagged for degradation when it is no longer needed, and more ENaC channels remain at the cell's surface. The increase in channels at the cell surface abnormally increases the reabsorption of sodium, which leads to hypertension. Because removal of potassium from the blood is linked with reabsorption of sodium, excess sodium reabsorption leads to hypokalemia.

Last updated on 05-01-20

How is Liddle syndrome diagnosed?

A diagnosis of Liddle syndrome is often suspected based the presence of early- onset hypertension (high blood pressure), especially in people with a family history of the condition. Additional testing can then be ordered to confirm the diagnosis. This may include:

  • Blood tests which can detect low levels of potassium, renin and aldosterone.
  • Urine tests to identify low levels of sodium and aldosterone.
  • Genetic testing to look for a change (mutation) in the SCNN1B or SCNN1G gene.

Last updated on 05-01-20

How is Liddle syndrome inherited?

Liddle syndrome is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with Liddle syndrome has a 50% chance with each pregnancy of passing along the altered gene to his or her child.

Last updated on 05-01-20

What is Liddle syndrome?

Liddle syndrome is a rare, inherited condition that is primarily characterized by severe high blood pressure (hypertension) that often develops at an early age. Although the condition may not be associated with signs and symptoms initially, untreated hypertension can eventually lead to heart disease or stroke. Affected people may also have low levels of potassium in the blood (hypokalemia) and metabolic alkalosis. Liddle syndrome is caused by mutations in either the SCNN1B or SCNN1G genes and is inherited in an autosomal dominant manner. Treatment may include a low sodium diet and potassium-sparing diuretics to reduce blood pressure and normalize potassium levels. Conventional anti-hypertensive therapies are not effective.

Last updated on 05-01-20

What is the long-term outlook for people with Liddle syndrome?

With treatment, the long-term outlook (prognosis) for people with Liddle syndrome is good. However, untreated hypertension may lead to stroke, heart disease and/or kidney problems which can be fatal.

Last updated on 05-01-20

How might Liddle syndrome be treated?

Treatment for Liddle syndrome consists of following a low sodium diet and taking potassium-sparing diuretics, which reduce blood pressure and correct hypokalemia and metabolic alkalosis. Conventional anti-hypertensive therapies are not effective for this condition.

Last updated on 05-01-20

Name: American Heart Association 7272 Greenville Avenue
Dallas, TX, 75231-4596, United States
Phone: 214-570-5978 Toll Free: 800-242-8721 Email: https://www.heart.org/en/forms/general-questions-and-latest-research-information Url: https://www.heart.org

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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