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Liddle syndrome

The Liddle syndrome is an autosomal dominant form of hereditary hypertension and hypokalemia.

Test Strategy

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.

Clinical Findings

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.

Diagnosis

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.

Differentials

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.

Pathogenesis

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.

Systematic

Disorders of tubular solute transport
Genetic disorders of proximal tubular function
Hereditary Salt-wasting tubulopathies
Inherited disorders of calcium balance
Liddle syndrome
NEDD4
NEDD4L
NR3C2
OXSR1
SCNN1B
SCNN1G
STK39
Nephrogenic diabetes insipidus
Pseudohypoaldosteronism
Renal tubular acidosis

References:

1.

None (1998) Liddle syndrome: an autosomal dominant form of human hypertension.

external link
2.

OMIM.ORG article

Omim 177200 external link
3.

Orphanet article

Orphanet ID 526 external link
4.

Wikipedia article

Wikipedia EN (Liddle's_syndrome) external link
Update: Aug. 14, 2020
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