What is Liddle’s Syndrome?
This syndrome is an autosomal dominant form of hereditary hypertension or chronic high blood pressure and hypokalemia which is an abnormally low concentration of potassium ions in the blood. In other words, this is a genetic and rare disorder where the kidneys evacuate potassium but keep too much sodium and water, leading to high blood pressure. This syndrome could have onset in infancy, but children often show no signs of the syndrome.
This disorder does not always cause symptoms. But if it does, symptoms like hypertension often begin early. Some individuals also have low levels of potassium in the blood.
Some of the symptoms of Liddle syndrome include:
- Metabolic acidosis – which is a process that when left unrestrained leads to blood pH that is too low due to amplified manufacture of H+ by the body or the failure of the body to develop bicarbonate (HCO3-) in the kidney.
- Low rennin level
- Reduced aldosterone secretion
- Low blood potassium level
- Muscle weakness
- Heart palpitations
- Shortness of breath
- Decreased exercise capacity and tolerance
- Abdominal bloating
Children with this syndrome are normally asymptomatic. The first suggestion of this syndrome often is the discovery of hypertension thru a routine exam. Since this syndrome is very rare it might only be considered by the child’s doctor after the child’s high blood pressure does not react to antihypertensive medication.
When allowing for symptoms of Pseudoaldosteronism, it is also important to consider Pseudoalosteronism as possibly being caused by some other medical condition. The Disease Database lists the following medical problems that could be causing the Pseudoaldosteronism such as:
- Alkalosis, metabolic
- Hypertension, systemic
- Renin levels low – serum
Liddle syndrome develops when the kidneys expel potassium but hold extreme amounts of water and sodium and lead to elevated blood pressure. The gene causing this syndrome is dominant, meaning that if any individual has this mutated gene, then their children have a 50% chance of receiving this defective gene.
Liddle syndrome is linked with low plasma renin action, metabolic alkalosis owing to hypokalemia and hypoaldosteronism – or low secretion of aldosterone.
This is only one of numerous circumstances with this uncommon set of features known communally as pseudohyperaldosteronism. High blood pressure caused by this syndrome often starts in infancy.
Liddle syndrome contains atypical function of the kidneys, with additional resorption of sodium as well as the loss of potassium thru the renal tubule, and is frozen with blend of diet that is low in sodium and diruetic drugs that are potassium-sparing.
Evaluation of a pediatric hypertensive child typically includes analysis of the electrolytes of the blood as well as a level of aldosterone in the system, as well as various other tests. With Liddle syndrome, the serum sodium is normally elevated, the serum bicarbonate is high and the serum potassium is lower. But the physician needs to make certain that the findings are not from other conditions such as hyperaldosteronism which is also a very rare problem causing hypertension in infants. Primary hyperaldosteronism which is also referred to as Conn’s syndrome is also caused by adrenal tumor that is aldosterone-secreting or adrenal hyperplasia. Levels of aldosterone are high with hyperaldosteronism, but are low to normal in Liddle syndrome.
The treatment for this syndrome is with low salt or low sodium diet and a diuretic that is potassium-sparing and blocks the sodium channel directly. Diuretics that are effective with this syndrome include triamterene and amiloride; drugs that block the sodium channel which stops the disease from growing.
The drug spironolactone is not operative due to the fact that it works by the regulation of aldosterone and Liddle syndrome does not react to this directive.