Liddle Syndrome

#med #disease #y2023

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Presentation :

Clinically resembles primary aldosteronism, with hypertension, hypokalemia and metabolic alkalosis, BUT with low plasma renin and aldosterone levels
Diagnosis is suggested by the presence of hypertension in a young patient, particularly one with a positive family history.

Pathophysiology :

Caused by mutations to subunits of the Epithelial Sodium Channel (ENaC)
- Mutations typically prevent ubiquitination of these subunits, slowing the rate at which they are internalized from the membrane, resulting in an elevation of channel activity
- Mutations can also increase ENaC activity by increasing the probability that ENaC channels within the membrane are open

Diagnostic Testing:

Low urine sodium (< 20 mmol/L), low plasma renin and aldosterone levels, and response to empiric treatment usually are considered sufficient to confirm the diagnosis.
Definitive diagnosis can be achieved through genetic testing

Treatment :

Triamterene 100-200mg PO BID and Amiloride 5-20mg PO QD are effective as they block ENaC channels.
- Note: spironolactone is ineffective as it lacks this ENaC activity

Prognosis:

References:

Created at: periodic/daily/August/2023-08-05-Saturday