Liddle Syndrome - Medtick
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Liddle Syndrome

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

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