Liddle's syndrome

Liddle's syndrome (pronounced: LID-uhlz SIN-drohm) is a rare genetic disorder characterized by early and severe high blood pressure. The syndrome is named after Dr. Grant Liddle who first described the condition in 1963.

Etymology

The term "Liddle's syndrome" is derived from the name of Dr. Grant Liddle, an endocrinologist who first described the condition. The term "syndrome" is derived from the Greek word "syndromē", which means "concurrence of symptoms, concourse".

Definition

Liddle's syndrome is a form of monogenic hypertension, a type of high blood pressure that is caused by a specific gene mutation. It is characterized by severe hypertension that often appears at a young age, low levels of potassium in the blood (hypokalemia), and low levels of aldosterone, a hormone that regulates salt and water balance in the body.

Symptoms

The symptoms of Liddle's syndrome can vary, but they often include severe high blood pressure, muscle weakness, and fatigue due to low potassium levels. In some cases, individuals with Liddle's syndrome may also experience excessive thirst and urination.

Causes

Liddle's syndrome is caused by mutations in the SCNN1A, SCNN1B, or SCNN1G genes. These genes provide instructions for making parts of channels that transport sodium ions across cell membranes. Mutations in these genes result in an increase in sodium reabsorption in the kidneys, leading to an increase in blood volume and high blood pressure.

Diagnosis

Diagnosis of Liddle's syndrome is based on clinical symptoms, blood and urine tests, and genetic testing. The blood and urine tests can reveal low levels of potassium and aldosterone, while genetic testing can identify mutations in the SCNN1A, SCNN1B, or SCNN1G genes.

Treatment

Treatment for Liddle's syndrome typically involves medications to lower blood pressure and increase potassium levels. In some cases, dietary changes may also be recommended.

Related Terms

• Hypertension
• Hypokalemia
• Aldosterone
• Monogenic hypertension
• SCNN1A
• SCNN1B
• SCNN1G

External links

• Medical encyclopedia article on Liddle's syndrome
• Wikipedia's article - Liddle's syndrome

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