Liddle's syndrome
Liddle's syndrome is a rare inherited disorder characterised by hypokalaemic alkalosis, hypertension, and negligible aldosterone secretion.
- results from inappropriately elevated sodium reabsorption in the distal nephron
- caused by mutations to subunits of the Epithelial Sodium Channel (ENaC)
- among other mechanisms, such 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
- a minority of Liddle's syndrome mutations, though, result in a complementary effect that also elevates activity by increasing the probability that ENaC channels within the membrane are open
- caused by mutations to subunits of the Epithelial Sodium Channel (ENaC)
- potassium-sparing diuretics such as amiloride and triamterene reduce ENaC activity, and in combination with a reduced sodium diet can restore normotension and electrolyte imbalance in Liddle’s syndrome patients
Create an account to add page annotations
Add information to this page that would be handy to have on hand during a consultation, such as a web address or phone number. This information will always be displayed when you visit this page