Liddle's syndrome

Liddle's syndrome is a rare genetic disorder characterized by early and severe high blood pressure, low levels of potassium in the blood (hypokalemia), and abnormal increases in the excretion of sodium in the urine (hyperaldosteronism). The condition is caused by mutations in the SCNN1A, SCNN1B, or SCNN1G genes. These genes provide instructions for making proteins that are part of channels that transport sodium ions across cell membranes. Mutations in these genes result in channels that are constantly open, which leads to an increase in the reabsorption of sodium by the kidneys. This increased reabsorption causes the symptoms of Liddle's syndrome.

Symptoms

The symptoms of Liddle's syndrome typically appear in childhood or adolescence and may include:

• High blood pressure (hypertension)
• Low levels of potassium in the blood (hypokalemia)
• Abnormal increases in the excretion of sodium in the urine (hyperaldosteronism)
• Metabolic alkalosis, a condition in which the body's pH level is higher than normal
• Muscle weakness and fatigue
• 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 proteins that are part of channels that transport sodium ions across cell membranes. Mutations in these genes result in channels that are constantly open, which leads to an increase in the reabsorption of sodium by the kidneys. This increased reabsorption causes the symptoms of Liddle's syndrome.

Diagnosis

Diagnosis of Liddle's syndrome is based on the clinical symptoms, laboratory tests showing low potassium levels and high sodium levels in the urine, and genetic testing confirming a mutation in one of the SCNN1 genes.

Treatment

Treatment for Liddle's syndrome typically involves medications to lower blood pressure and correct the electrolyte imbalances. Potassium-sparing diuretics are often used. In some cases, a low-sodium diet may also be recommended.

See also

• Hypertension
• Hypokalemia
• Hyperaldosteronism
• Metabolic alkalosis
• SCNN1A
• SCNN1B
• SCNN1G

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