What is it?
Liddle syndrome is an inherited form of high blood pressure (hypertension).
- This condition is characterized by severe high blood pressure that begins unusually early in life, often in childhood, although some affected individuals are not diagnosed until adulthood.
- In addition high blood pressure) affected individuals can have low levels of potassium in the blood (hypokalemia).
- The shortage of potassium can also raise the pH of the blood, a condition known as metabolic alkalosis.
- Plasma renin activity and serum aldosterone levels are low (these hormones also play a role in blood pressure, these findings are similar to patients with an excess of aldosterone).
This disorder is caused by a disease-causing variant (mutation) in one of 3 genes (SCNN1A, SCNN1B, and SCNN1G) that encode the epithelial sodium channel (ENaC), these channels are found in the lungs and kidneys and control how much sodium goes into our cells.
- Over-active ENaC in the distal nephrons of the kidney leads to excessive sodium reabsorption and associated electrolyte imbalances.
- The excess sodium retention effects blood pressure control, resulting in hypertension that is resistant to most anti-hypertensive medications.
NORD
If blood pressure is not going down when on medication, your medical doctor should consider this condition
Cause
- Over-active ENaC in the distal nephrons of the kidney leads to excessive sodium reabsorption and associated electrolyte imbalances.
- Family history
Complications /Information to beware of/General tips:
This condition may show similar symptoms to:
- Apparent mineralocorticoid excess – to many hormones that cause high blood pressure
- Activating mineralocorticoid receptor mutation – sensitive receptors that cause high blood pressure
- Bartter syndrome/Gitelman syndrome
- Conn’s syndrome – high levels of aldosterone
- Familial hyperkalemic hypertension (Gordon syndrome) – high levels of potassium and low levels of renin
- Glucocorticoid remedial aldosteronism – high level of aldosterone activity
- Long term kidney disease
If blood pressure is not going down when on medication, your medical doctor should consider this condition
Detailed Information
Please copy and paste any key words from the title: Liddle Syndrome in the following respective 'Medtick References and/or Sources' to find out more about the disease (this also may include diagnosis tests and generic medical treatments).
- NHS
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