Liddle's syndrome

The Liddle 's syndrome is a special form of arterial hypertension (high blood pressure) and occurs only very rarely.

Cause

The disease is due to a genetic mutation of the subunits of the epithelial sodium channel ( ENaC), which lead to a " functional improvement " - leads ( "gain -of-function " mutation ) of this renal epithelial sodium channel. Normally, the synthesis, membrane integration and disintegration and decomposition of the sodium channel are endocytosed into a stable steady state. The mutation, however, requires modification of one subunit on the cytosolic side of the sodium channel, causing its degradation is greatly reduced. The result is an increased density of this channel in the membrane and a resultant excessive increase in sodium re in the kidney. Thus, the amount of blood in circulation, which eventually leads to hypertension, increased. The increased sodium retention leads to severe renal loss of potassium and consecutive metabolic alkalosis.

• Genetic disorder
• Disease in internal medicine