The Liddle syndrome is an autosomal dominant form of hereditary hypertension and hypokalemia.
For exclusion of secondary hypertension, volume expansion and potassium concentration is regularly measured. Additionally, aldosterone secretion can be measured in daily urine. If all these data indicated Liddle syndrome a molecular diagnostic can be used to confirm.
In this inherited disease the symptoms resemble aldosteronism (hypokalemia, volume expension, hypertension, metabolic alkalosis) despite a suppressed renin and aldosterone secretion.<br> Aldosteron-sensitivity persists so aldosteron administration can make the symptoms worse.<br> Spironolacton, the aldosterone antagonist, has little effect. This is not surprising, for the aldosterone levels low already. In contrary, the positive effect of amiloride and triamterene, the selective blockers of the aldosteron sensitive sodium channel, is of pathognomonic evidence. Diet should be low in sodium and rich in potassium.
The diagnosis is made by the typical combination of hypertension, hypokalemia, metabolic alkalosis, hyporeninemia and hypoaldosteronemia. Because of the dominant inheritance there is often a positive family history. To test the effectiveness of amiloride and triamterene is essential.
The regulation of the aldosterone sensitive sodium channel is a complex process with many genes involved, so it is not surprising that still not all of them are discovered.
The reason for this disease is a permanent activation of renal epithelial sodium channel (ENaC). Mutations in beta and gamma subunit of this channel prevent the closure of this channel in case of height intracellular sodium concentrations.
|Disorders of tubular solute transport|
|Genetic disorders of proximal tubular function|
|Hereditary Salt-wasting tubulopathies|
|Inherited disorders of calcium balance|
|Nephrogenic diabetes insipidus|
|Renal tubular acidosis|
None (1998) Liddle syndrome: an autosomal dominant form of human hypertension.
OMIM.ORG articleOmim 177200
Orphanet articleOrphanet ID 526
Wikipedia articleWikipedia EN (Liddle's_syndrome)