Liddle syndrome
Liddle syndrome (pronounced: LID-ul sin-drome) is a rare genetic disorder characterized by early and severe high blood pressure (hypertension). The syndrome is named after Dr. Grant Liddle who first described the condition in 1963.
Etymology
The term "Liddle syndrome" is derived from the name of the physician, Dr. Grant Liddle, who first identified the condition. The term "syndrome" is derived from the Greek word "syndromē," which means "concurrence of symptoms," or "running together."
Definition
Liddle syndrome is a form of monogenic hypertension, a type of high blood pressure that is caused by a single gene mutation. It is characterized by severe hypertension that often appears at a young age, typically in childhood or adolescence.
Symptoms
The primary symptom of Liddle syndrome is high blood pressure. Other symptoms may include low levels of potassium in the blood (hypokalemia), metabolic alkalosis, and suppressed plasma renin activity.
Causes
Liddle 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 an increase in sodium reabsorption, leading to an increase in blood volume and high blood pressure.
Diagnosis
Diagnosis of Liddle syndrome is based on clinical symptoms, family history, and genetic testing. The syndrome can be confirmed by identifying a mutation in one of the three genes associated with the condition.
Treatment
Treatment for Liddle syndrome typically involves medications to control blood pressure and correct electrolyte imbalances. In some cases, a low-sodium diet may also be recommended.
See also
External links
- Medical encyclopedia article on Liddle syndrome
- Wikipedia's article - Liddle syndrome
This WikiMD dictionary article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski