Liddle syndrome

Liddle syndrome is an autosomal dominant inherited disease with familial aggregation caused by mutations of ENaC (encoded by SCNN 1B or SCNN 1 G) in renal tubule epithelial cells.These mutations cause an increase in the number and activity of ENaC in apical membrane,which upregulates reabsorption of Na + as well as liquid in distal nephron.The disease is characterized by hypertension,hypopotassaemia,and low levels of plasma renin-angiotensin-aldosterone.Amiloride or triamterene,in combination with a low salt diet corrects these abnormalities while aldosterone receptor antagonist spironolactone is invalid. Key words: Liddle syndrome;  ENaC;  SCNN 1 ;  Hypertension ;  Hypopotassaemia;  Amiloride